Page 11234

Archive for the ‘Gene Therapy Doctor’ Category

$2.1 million drug approved for Pearland toddler with rare genetic disease – KHOU.com

PEARLAND, Texas A 2-year-old whose family has been fighting for a $2 million drug to battle her rare disease received approval for the drug Friday.

Krista James has Spinal Muscular Atrophy, or SMA, a life-threatening condition that severely impacts kids muscle movements. Her family has been fighting for the toddler to receive Zolgensma, a cutting-edge gene therapy that treats the disease at the genetic level.

RELATED: Pearland family fighting to get $2.1 million drug for toddler with rare genetic disease

Zolgensma is the most expensive drug to ever receive FDA approval. The treatment is priced at $2.125 million.

Despite Kristas doctor telling Medicaid its what the toddler needs, the request for coverage was denied until Friday, which happened to be Kristas 2nd birthday. Texas Health and Human Services approved the family's appeal.

The family told KHOU 11 they are beyond blessed and considered the approval the best birthday present ever.

ALSO POPULAR ON KHOU.COM

Send us a news tip | Download our app |#HTownRush Newsletter

Read more here:
$2.1 million drug approved for Pearland toddler with rare genetic disease - KHOU.com

The ‘Magic’ Behind Every Successful Blockbuster Drug – DailyWealth

The Weekend Edition is pulled from the daily Stansberry Digest.

Twenty years ago, Stansberry Research founder Porter Stansberry hired me...

He wanted me to write about the economics of medicine for the everyday investor.

The goal was to track revolutions, not evolutions. That meant finding actionable information on new, world-changing drugs, not new hospital beds.

The first great drug we came across was a cancer drug called Gleevec. It worked miracles... but only for a vanishingly small number of cancer patients.

In fact, you needed a specific tragedy in your genetic code to get the defect that Gleevec could hit. If two clusters of your DNA split and rejoined in a special way, your body built a gene that didn't exist before, and it led to leukemia...

This was one of the first cancer genes ever discovered, and the pill landed right in its heart. Gleevec killed the cancer cells that made the target.

In the U.S. Food and Drug Administration's ("FDA") Phase II trials, the results were astonishing: 98% of people's cancers disappeared, meaning they had a "complete response" to the pill.

The FDA approved Gleevec based on the astonishing results.

But we passed on it. We never recommended subscribers invest in it. You see, despite the drug's promise, there was no buying opportunity back then...

The global pharmaceutical company Novartis (NVS) developed Gleevec.

Novartis was a $100 billion firm two decades ago, so investors had to balance the upside on a $1 billion (or more) blockbuster drug against the revenue of its other products.

This brings up an important point...

The world's largest drug firms are marketing machines as much as factories for innovation...

They must keep selling new drugs.

It typically takes about 10 years to develop a drug, and "patent protection" is 20 years... after which the drug then becomes a cheaper generic. So a drug company has roughly just 10 to 12 years to make back its return on investment.

That means if a Big Pharma company has two dozen drugs like Novartis did at the time then two or more will likely be coming off patent protection every year. That could mean a sudden 75% drop in revenue on that product line.

It's a complicated picture.

So instead, Porter and I focused on smaller pharmaceutical firms the ones that were pure inventors.

That's because big firms need to buy up the smaller firms' new drugs... so they can always be selling branded products.

In short, there's an economy in new medicines...

In the U.S., all medicine everything from hospital stays to ACE bandages is a segment of the economy that accounts for $3.5 trillion per year. But globally, medicines alone are worth $1.3 trillion in annual sales. And the latest inventions are valuable.

You should know, I'm not a doctor. And of course, neither is Porter...

So when we started to look for innovative medicines, we looked at it from a different perspective, like we were patients.

We didn't think we'd get all these dreaded diseases. But we knew some folks did or their families did so we respected that.

It's a medical spin on one of Porter's pillars of Stansberry Research: What would we want from you if our positions were reversed?

As we looked for new medicines to invest in, we looked at what was best for patients...

And that led us to a truth about side effects that at the time was alien to most doctors and Wall Street... People don't like side effects.

Sounds trivial, right? But here's the economic impact... When you realize that patients are customers, you realize they make choices. And they will always choose the safer course.

Imagine a drug that's 25% effective, with minimal side effects. Then compare it with a drug that's 50% effective that comes with severe side effects. You'd try the safer drug first.

There's no reason not to at least try it, because there's no downside. That's how a 25% effective drug can win 100% of the market... and disrupt "traditional" medicine.

Keep in mind, companies still need to prove the effectiveness of their medicines in controlled clinical trials. We didn't like herbal medicines, or success by anecdote, or outright falsehoods (like stem-cell treatments).

With our early subscribers, we entered the ground floor of a new way of looking at medicine...

We looked for biotechnology drugs that could be vastly more effective and safer than any drug or treatment before...

For example, we picked Intuitive Surgical (ISRG) in March 2004 when it was an $18 stock. A little more than a year later, in April 2005, we booked a 124% return. Today, ISRG shares trade for roughly $566.

The big idea here was robotic-assisted surgery plus, patents from the lone inventor who first imagined this concept. But these patents were more of a sketch than a device. The magic was in the engineering...

You see, engineering is what really drives biotech developments...

A core demand in our economy is reproducibility, or the ability to scale. You have a smartphone only because a billion people have smartphones. Otherwise, you'd be holding a Faberg egg. Let me explain...

More than a hundred years ago, Russian Tsar Alexander III purchased the first of these fancy eggs from Faberg, a jewelry firm founded in Saint Petersburg. It's said only as many as 69 eggs were created, and Alexander bought one each year.

They're now the ultimate luxury bauble. I'm not sure if one will hit the auction stand... But I figure they'd go for $20 million each today.

Meanwhile, for $1,000, you can buy the recently released iPhone 11 Pro Max from Apple (AAPL). It has front and rear cameras that capture hours of high-resolution video and can transmit pictures and video globally in real time.

Both a Faberg egg and the smartphone are hand-held objects. They're colorful, even glistening. But one is ultimately static and unmoving. The other is all about movement, up to and including moving images.

Another way to put this is that the Faberg egg is about what Faberg, the company's founder, wants you to see...

The smartphone is about giving you choices, which you can change at will.

Overall, the annual market for Faberg eggs is worth, well, nothing, because they're all in private hands. More than $500 billion worth of smartphones were sold around the world last year.

This is the value of craftsmanship versus engineering.

Twenty-first century medicine is like this, too...

Not a single advance in biotech is cut off from science and engineering. New chips, new software, and even new micro-fluidics shape what we can learn.

One of the trends we follow in my Stansberry Venture Technology financial advisory is artificial intelligence ("AI"), which has amazing potential in health care.

Consider cancer detection... Radiologists don't scan for brain tumors if you get an MRI for a stomachache. AI can.

This is a screening function by the machine itself a radiologist will confirm what the AI finds. But this means early detection to stop a cancer before it becomes life-threatening. It's a fail-safe.

What to do when the worst happens...

The American Cancer Society foresees 600,000 deaths from cancer in the U.S. in 2019. But for almost all types of cancer, the age-adjusted death rates are slowly decreasing.

Overall, that's tremendous news. It reflects, in large part, more refined radiation therapy machines, better surgical techniques, and safer, more effective medicines. (We cover all these advances in Venture Technology.)

But some exceptions exist... The death rates for liver, pancreatic, and uterine cancers are still increasing. For liver cancer, it's driven by hepatitis, alcohol, and obesity. For uterine cancer, it's obesity and lack of screening.

Fortunately, Big Pharma companies Gilead Sciences (GILD) and Merck (MRK) now offer cures for hepatitis (at steep prices, mind you). And better screening for uterine cancer will follow, as MRIs with AI move from the research stage into general practice.

So the real outlier is pancreatic cancer. But there's light at the end of the tunnel... Earlier this month, in the leading science journal Nature, we learned that pancreatic cancer might be caused by an infection from a common fungus the same one that causes dandruff and eczema.

So maybe anti-fungal medications can help with that.

As it happens, we're already tracking the first new class of anti-fungal drugs in Venture Technology. This is a developmental drug that completed its FDA Phase II mid-stage trials. And for fungal infections, it has a very high cure rate...

That's because it's new...

Fungi can evolve around the threat of an anti-fungal drug... just like bacteria can evolve around antibiotics, and fast-growing cancers evolve around targeted therapies like Gleevec.

Yes, that's right... The first drug that Porter and I thought was a revolution in cancer care Novartis' Gleevec turned out to be a temporary fix.

Research has since found that up to one-third of patients will not achieve "optimal response." In all these patients, their cancers surge back. We noted this recently while recommending another biotech company to Venture Technology subscribers in April 2018...

Novartis went on to make $12 billion globally on Gleevec. It's only recently run out of patent. The dark secret was that the target that Gleevec hit could mutate so the effect did not last.

In order to cure cancer, you need to do one of two things...

The first method is well-known...

It takes good diagnostics and good surgical techniques. Ideally, this is minimally invasive surgery, not open surgery. That's the goal.

But a problem occurs if there are two, three, five, or seven sites of cancer. Or if it's a spread-out tumor. Or if it's around a critical organ... like your spinal cord.

Many advanced cancers simply can't be treated with surgery.

Finally, let me tell you about the second method...

It's brand-new. We only confirmed it last month, when a therapy we've been tracking for three years won a gold medal at a major medical society.

We've been tracking this all over the world in San Diego... San Antonio... Washington... London... Milan... Turin... and Chicago. Plus, we'll keep tracking it in the years to come.

It's that powerful.

Indeed, it's already here it's at the turning point, which is the best time for investors to get involved.

More than a quarter of all U.S. cancer patients will get this treatment in 2020. But no one else is reporting on this.

Seriously. We scoured the popular press... and literally nothing came up. Thousands of medical articles describe it, but no major or minor news outlet has picked it up yet.

That's why we think this research, in addition to being life-changing or life-saving for those with cancer, is so valuable to investors. You can learn more about it right here.

Regards,

Dave Lashmet

Editor's note: Dave believes the study of cancer has crossed an important threshold... For the first time in his career, he says it's reasonable to start talking about a cure. It still may be a few years away, but that's why now is the time to invest in the trend... Dave and his team just put together an urgent video presentation with all the details. Watch it right here.

See original here:
The 'Magic' Behind Every Successful Blockbuster Drug - DailyWealth

Save your child from paediatric cancer: Know what to look out for – TheHealthSite

Neuroblastoma is a paediatric cancer of the nerve tissues. It usually affects infant and children below the age of 5. Though it usually happens in and around the adrenal glands, it can also occur in other parts of the abdomen, chest, neck, pelvis, bones and also near the spine. In very rare cases, it can affect older children too. If your child complains of pain in the bones and has recurring fever, consult a doctor. Early detection and treatment can make the difference between life and death. This paediatric cancer can also strike older children and adolescents in very rare cases.

Now researchers at The Mount Sinai Hospital / Mount Sinai School of Medicine have identified a targetted therapy for adolescent patients with neuroblastoma. The study is published in Cancer Cell. It has a very poor prognosis in older children mainly because of lack of effective targeted therapies.

New therapy for neuroblastoma identified by Mount Sinai Hospital researchers.

Researchers found that neuroblastoma in older children and adolescents harbouring deletions within a gene called ATRX may be responsive to a targeted therapy called tazemetostat. According to them, this therapy disables an enzyme called EZH2 that inhibits genes that promote normal neuron development, in turn killing neuroblastoma cells.

They say that neuroblastoma arises in immature nerve cells of the adrenal glands and portions of the spine during the development of the sympathetic nervous system, which controls the bodys flight or fight response to stress. EZH2 inhibitors are already being tested in phase I and phase II clinical trials for other cancers, including lymphomas, sarcomas, and other solid tumours, with some favourable results, they add.

There are some cancers that are more common in children though they may also get some adult cancers too in rare cases. According to a modelling study in The Lancet Oncology, there are almost 400,000 new cases of childhood cancer annually, while current records count only around 200,000. Researchers say that the new model makes predictions for 200 countries and estimates that undiagnosed cases could account for more than half of the total in Africa, South Central Asia and the Pacific Islands. In contrast, in North America and Europe only three per cent of cases remain undiagnosed. If no improvements are made, researchers estimate that nearly three million further cases will be missed between 2015 and 2030.

Another study at the University of Colorado Cancer Center says that treatments for childhood cancers have improved to the point that 5-year survival rates are over 80 per cent. However, one group has failed to benefit from these improvements. These are children who die so soon after diagnosis that they are not able to receive treatment. Sometimes late treatment also increases the fatality rate of paediatric cancers.

Here, let us take a look at a few types of paediatric cancers other than neuroblastoma.

This is the most common type of paediatric cancer. It affects the bone marrow and blood. According to the American Cancer Society, this type of paediatric cancer accounts for about 30 per cent of all cancers in children. There are many types of leukaemia and the most common types are acute lymphocytic leukaemia and acute myelogenous leukaemia.

What to look out for: Be alert to symptoms of bone and joint pain, unusual tiredness, weakness and a pale skin, bleeding or bruising, fever and weight loss. Early detection can save your child.

The American Cancer Society says that these tumours account for about 26 per cent of paediatric cancers. In children, tumours often occur in the lower parts of the brain.

What to look out for: Symptoms are severe headaches, nausea and vomiting, vision problems, dizziness, seizures and convulsions and coordination issues. Take prompt action if you see any of these signs in your child.

This cancer begins in the cells that develop into skeletal muscles. It can occur in any part of the body The American Cancer Society says that this cancer is relatively rare and affects only about 3 per cent of children globally.

What to look out for: Symptoms are pain, swelling or both.

Also called nephroblastoma, this occurs in one, or in very rare cases, both the kidneys. It mostly affects children below the age of 3 to 4 years.

What to look out for: The first sign is usually a swelling or lump in the abdominal area. Other symptoms are fever, pain, nausea and loss of appetite.

This is a cancer that manifests in the immune system cells called lymphocytes. It affects the bone marrow and other organs. But this paediatric cancer is rarer than leukaemia and brain tumour.

What to look out for: Symptoms are usually unexplained weight loss, recurring fever, bouts of sweating, fatigue and swollen lymph nodes under the skin of the neck, armpit or groin.

This is eye cancer. It strikes children at around 2 years of age. It may make a childs eye look different gradually.

What to look out for: Be alert to any changes in colour and size of eyes. The pupils may also start to look white or pink. You can take a picture of your child with the flash on. This will reveal the whiteness of the pupil.

Published : October 19, 2019 10:32 am | Updated:October 19, 2019 10:33 am

Continued here:
Save your child from paediatric cancer: Know what to look out for - TheHealthSite

A Netflix Series Explores the Brave New World of Crispr – WIRED

Perhaps nowhere is this access more arresting than in the shows third installment, which explores the concept of gene drivea technique that uses Crispr to drive a genetic change through a population at evolutionary warp speed. Its inventor, an MIT engineer named Kevin Esvelt, spends the episode flying around the world, pitching it as a way to erase Lyme disease, say, from the tick-infested parts of Massachusetts or to exterminate invasive rodents in New Zealand. At a meeting with Maori elders, Esvelt is attacked for taking funding from Darpa, the Defense Advanced Research Projects Agency. We've heard lots and lots of nice words from the colonizers over the millennia that have proven to be hollow, said one man. You're a little bit like the missionary who comes along with a good story, but behind you are a whole lot of men with rifles."

These moments of suspicion and fear arise throughout the episode, including in street protests in Burkina Faso, where thousands marched against a proposal to release gene-drive mosquitoes in that country as a way to eradicate malaria. But just when Unnatural Selection has you convinced that this technology is too new, too dangerous to be let loose on the world, it drops you into a clinic in a rural village, where every person comes down with malaria at least once a yearsometimes taking their lives, especially the young ones. At the human level, we are the ones suffering from this thing," says Abdoulaye Diabate, a medical entomologist who grew up in Burkina Faso and is leading some gene-drive experiments there. Bearing the burden of malaria no longer has to be the fate of Africa, he adds. Not when the technology to eliminate the disease exists.

Yet the episodes can also seem frenetic without a narrator at the helm, as when the first episode jumps between the labs of various scientists and the Oakland garage of the Odins Josiah Zayner. If you were looking for a Schoolhouse Rock explanation of how Crispr works or a deep dive on the history of its discovery, Unnatural Selection wont deliver. And it can muddy the distinctions between various technologies, as Crispr, gene editing, gene therapy, and genetic engineering all get thrown around. The second episode, for example, features two families seeking astronomically expensive new gene therapies. Neither are Crispr-based medicines, though the families' struggle for access offer a hint of what's to come when such medicines eventually arrive.

Like any good series, the most compelling moments come in the final episode, which examines the most controversial use of Crisprediting human embryos to pass changes on to future generations. The couples who bring the specter of designer babies to life do so using todays fertility techniques. In one scene, a fertility doctor helps his patients pick out embryos that are likely to become babies boasting the same blue eyes as their mother. In another, a Ukrainian couple delivers a healthy baby boywith 23 chromosomes from his mother, 23 chromosomes from his father, and mitochondrial DNA from another woman, the product of three-parent IVF.

Its in this episode too that Ishee emerges as more than a ponytailed dog semen savant. As he sees his biohacking friends accelerate a reckless attempt to create and commercialize a home HIV cure using Crispr, his confidence in their altruistic ambitions begins to erode. Egender and Kauffmans cameras capture these moments of fracture and ultimately, failure, with unsentimental lucidity. Its a refreshing dose of reality after so much spectacle.

Thats not to say that the shows subjects completely avoid falling into sci-fi tropes. All the requisite references will be madeto Gattaca, to Huxley, to life, uh, finds a way. But in the end, watching them confront their hopes and fears for what kind of world Crispr might make is a humbling and grounding experience. After watching Unnatural Selection you might not have a better understanding of how Crispr-Cas9 differs from Crispr-Cas12e, a, or b, but youll definitely have something to talk about on the subway.

Visit link:
A Netflix Series Explores the Brave New World of Crispr - WIRED

Gene-Therapy Treatment Could Help People with Macular Degeneration – Healthline

Share on PinterestTreatment for macular degeneration might become more convenient in the future. Getty Images

Age-related macular degeneration (AMD) is one of the leading causes of vision loss and blindness among older adults in the United States.

But now researchers are looking at a potential new treatment that may help prevent this common form of blindness from worsening.

Researchers at multiple sites are currently conducting a phase I clinical trial on a gene therapy that could help patients get fewer injections in their eye to treat the condition.

AMD develops when abnormal blood vessels form at the back of the eye, behind the retina. When those blood vessels leak blood or plasma, its known as wet AMD (wAMD).

To reduce vision loss and prevent blindness, people with wAMD have to visit their doctor every 4 to 8 weeks to receive injections of medication in the affected eye. If they miss or skip a scheduled treatment, it can cause their vision loss to worsen.

But treatment might become more convenient in the future, as researchers are currently conducting the phase I clinical trial on a gene therapy that would reduce the number of treatments patients need.

In this experimental therapy, genetic material is inserted into cells in the patients eye. This genetic material causes the cells to produce aflibercept, a medication thats used to treat wAMD.

If this therapy proves to be safe and effective, it may allow doctors to treat wAMD with as little as one injection. After that first injection, the patients eye would produce an ongoing supply of its own medication.

Theres a tremendous treatment burden with respect to our patients with wAMD, [as] many require 10-plus injections per year for their lifetime in order to maintain vision, Dr. Szilrd Kiss, lead investigator of the study and director of clinical research and chief of the retina service in the department of ophthalmology at Weill Cornell Medical College, told Healthline.

With this new in-office intravitreal gene therapy, there is potential for a one-and-done approach that can not only completely alleviate that treatment burden, but perhaps result in improved visual outcomes, he added.

Reducing the treatment burden on people with wAMD isnt just a matter of convenience.

When patients find it hard to stick to their treatment plan, it can lead to worse outcomes.

We know from other work thats been done that one of the biggest determinants of how well patients maintain their vision over the years is how often they receive medicine, Dr. Sunir Garg, a clinical spokesperson for the American Academy of Ophthalmology and a professor of ophthalmology at Wills Eye Hospital in Philadelphia, told Healthline.

Not getting treatment as often as the eye would require, thats a big cause for progressive vision loss over time, he continued.

Attending monthly or bimonthly visits with a doctor can be challenging for anyone, but patients with wAMD often face more barriers than many. Due to vision loss, they may not be able to drive themselves to their appointments, and may depend on others to get them there.

If scientists can develop a treatment approach that requires fewer doctor visits, that could have a substantial effect on a patients ability to stick to their treatment plan.

If all goes according to plan, Kiss hopes a gene therapy for wAMD may be available within 3 to 5 years.

Earlier this month, he reported promising preliminary results from his phase I clinical trial at the 123rd Annual Meeting of the American Academy of Ophthalmology.

So far, his research team has enrolled 12 patients in the first two cohorts of the trial. Theyre continuing to enroll patients in the third and fourth cohorts.

Among the six patients whove already received the gene therapy, all of them have gone at least 6 months without needing additional injections.

Patients in the first cohort experienced inflammation in the treated eye, but Kiss said it was generally mild and manageable with steroid eye drops. He added that control of this inflammation will be paramount to the success of this therapy.

Although the trial is ongoing, the early results are encouraging, says Dr. Matthew Gorski, an ophthalmologist at Northwell Health in Great Neck, New York. However, more research is needed to test this experimental treatment.

While the findings of the study are encouraging and provide hope for an improvement in the current ways to treat AMD, Gorski said, further studies with many more patients are needed to confirm the results and prove that this therapy is safe.

After Kiss and colleagues finish their phase I clinical trial, they plan to launch a larger, prospective, multicenter controlled clinical trial to further study their gene therapy.

This isnt the only potential breakthrough for AMD treatment. Other studies are also underway to develop and test more convenient and consistent methods of delivering treatment to people with wAMD.

In other gene therapy trials, scientists have been testing methods of surgically administering gene therapy under the retina, rather than using an injection that can be administered in a doctors office.

Scientists have also been studying a treatment approach known as the Port Delivery System, in which an urnlike reservoir is implanted in the eye and periodically filled with medication. This medication is meant to slowly diffuse into the eye, reducing the need for frequent treatments.

Time will quickly tell if one of those treatment models, or more than one of them, will end up helping our patients, Garg said.

But for now, he emphasizes the importance of getting early and consistent treatment with the injections that are currently available.

When patients seek treatment early and follow their recommended injection schedule, it can prevent additional vision loss and sometimes reverse vision loss thats already occurred.

Most patients dont mind coming in, because they know the current medicine helps them a lot, Garg said.

If we start to treat it earlier, that makes a huge difference to long-term outlook, he added.

Read the original:
Gene-Therapy Treatment Could Help People with Macular Degeneration - Healthline

Pearland family fighting to get $2.1 million drug for toddler with rare genetic disease – KHOU.com

PEARLAND, Texas Krista James is turning 2 years old this week. But unlike other toddlers, she cant walk, talk, or sit up on her own.

Krista has Spinal Muscular Atrophy, or SMA. The life-threatening condition severely impacts kids muscle movements.

(Doctors) said children with SMA dont live to be eight months or a year to two years, so its truly a blessing shes turning two Friday, said Misty James, the childs mother.

However, her upcoming birthday also means Krista is running out of time.

The FDA recently approved Zolgensma, a cutting edge gene therapy that treats the disease at the genetic level.

Children 2 years old and younger are eligible.

The treatment is priced at $2.125 million.

Despite her doctor telling Medicaid its what the toddler needs, the request for coverage was denied.

Last week when I got the third denial letter, I broke down, James said.

University of Houston professor Barbara Evans said the problem starts at the top, because jumping through the FDAs hoops to get approval can cost pharmaceutical companies billions of dollars per drug.

SMA is estimated to affect 400 babies per year. You take a high cost of development and divide it by 400. It leads to a high price, said Evans, Director of the Center for Biotechnology and Law at the University of Houston.

She explains it is a price that can even strain insurance companies budgets.

Zolgensma is sold by the Swiss drugmaker Novartis.

A spokesperson for AveXis, a Novartis Company, said in a statement, For any newly approved therapy, it takes time to set up agreements with commercial and government-based health plans and it is common for there to be an appeal process while insurers put coverage and utilization policies and procedures in place. To facilitate this, we are actively partnering with insurers to accelerate coverage decisions that will support access for eligible patients.

The statement added they are aware of Kristas situation and are in contact with multiple parties to help provide support and assistance.

In the meantime, Medicaid is covering a different, less expensive medicine for the little girl called Spinraza.

Spinraza comes with three spinal injections a year for the rest of her life.

Kristas family is grateful for the medication, but they believe this new drug can give their child the best shot at a normal life.

They feel helpless knowing their daughters future is in someone elses hands.

A spokesperson from Texas Health and Human Services confirmed an expedited fair hearing was held Thursday regarding Kristas case.

A decision, which can be appealed, is expected to be issued Friday, which is also Kristas second birthday.

To read the full statement from AveXis:

"The FDA approval of Zolgensma (onasemnogene abeparvovec-xioi), a gene therapy for spinal muscular atrophy (SMA) in pediatric patients less than 2 years of age, marked an important milestone within the SMA community. Understandably, many families are actively interested in accessing Zolgensma as soon as possible. Our goal is to support access for patients who need this one-time gene therapy. For any newly approved therapy, it takes time to set up agreements with commercial and government-based health plans and it is common for there to be an appeal process while insurers put coverage and utilization policies and procedures in place. To facilitate this, we are actively partnering with insurers to accelerate coverage decisions that will support access for eligible patients. We are pleased with our progress to date to support access for eligible children which includes many Medicaid state policies now in place, but our work with health plans is ongoing. While we cant discuss the specifics of any particular patient we are aware of this family and their efforts to access Zolgensma and we are in contact with multiple parties to help provide support and assistance."

ALSO POPULAR ON KHOU.COM

Send us a news tip | Download our app |#HTownRush Newsletter

Originally posted here:
Pearland family fighting to get $2.1 million drug for toddler with rare genetic disease - KHOU.com

Cleft palate or lip is one of the most common birth defects worldwide, but do you know what it is? – ABC News

It's estimated that every three minutes, somewhere in the world a baby is born with a cleft lip or palate, making it one of the most common birth defects.

Eighteen-year-old Emma Johnston was born with a cleft palate and has been in and out of hospital her entire life for surgeries and speech therapy.

"I was very aware growing up that my face did look different because of that, the way that my jaw fit together, it was just very different to other people's," she said.

Babies born with a completely clefted palate often need surgery to avoid lifelong problems with speech, eating and hearing.

Emma Johnston got to know her surgeons and doctors very well over the years of her treatment.

(Supplied: Emma Johnston)

Emma Johnston got to know her surgeons and doctors very well over the years of her treatment.

While a minor cleft lip may not require surgical treatment, it can still affect someone's quality of life if they feel uncomfortable or are bullied about their appearance.

Emma was born with an isolated cleft palate, which meant she had no cleft lip or other abnormalities other than the open palate.

She had her first palate surgery when she was just nine months old, and has had nine operations just to put grommets in her ears.

"Surgeries, as much as I'm used to them, they're not fun, they're not pleasant," she said.

To understand what cleft palate is, you have to understand the palate which is essentially the roof of your mouth.

The soft palate is at the back of the mouth ending in the uvula, which is the teardrop-shaped bit of soft tissue that dangles down.

(Getty Images: Christoph Wilhelm)

The soft palate is at the back of the mouth ending in the uvula, which is the teardrop-shaped bit of soft tissue that dangles down.

Getty Images: Christoph Wilhelm

The hard palate is the bony plate at the front of the roof of your mouth, directly behind your upper teeth, and it helps move food back through the mouth.

Your soft palate is at the back of the mouth and is made up of soft muscle which closes against the back wall of the throat when swallowing, blocking the nasal passage.

The soft palate is also the working mechanism for speech, closing and opening depending what type of sound is being made to let air out.

Clefting of the lip or palate happens when there is an incomplete fusion of the palate development in the womb typically in the sixth to eighth week of pregnancy that results in an opening in the upper lip, palate, or both. It can vary in its severity.

"Cleft palate is an abnormal gap or opening in the roof of the mouth," explained plastic and reconstructive surgeon Vani Prasad.

"It can be very minor, just a change in the shape of the lip, or a small scar from the lip to the nose.

"It can be incomplete cleft lip meaning the lip has a visible gap, but the nose is not affected, or if it's complete, the cleft can affect the nose and extend into the gum."

As is the case for Emma, a cleft palate can be isolated not accompanied by a cleft lip. In others the cleft palate and lip can occur together.

"We do see babies with soft and hard cleft palate, plus a complete cleft lip," said Dr Prasad, who's based at the Australian Craniofacial Unit in Adelaide.

Cleft lip and palate management usually involves a multidisciplinary team of medical staff including surgeons, speech therapists, dentists and psychologists.

(Getty Images: China Photos)

Cleft lip and palate management usually involves a multidisciplinary team of medical staff including surgeons, speech therapists, dentists and psychologists.

Getty Images: China Photos

The extent of the clefting, and whether the palate or lip is cleft in isolation can determine treatment and management, as well as the impact it has on quality of life.

Being born with a cleft palate can affect speech, hearing, the ability to eat, as well as physical appearance not to mention the potential for being a frequent flyer at the hospital or doctor's office.

But Emma's doctors are hopeful her most recent surgery is her final surgery on her palate.

Emma's cleft palate meant that sometimes food and spit would come back out her nose, because the palate didn't close against the back of her throat.

(Supplied: Emma Johnston)

Emma's cleft palate meant that sometimes food and spit would come back out her nose, because the palate didn't close against the back of her throat.

Her surgeon, Dr Mark Moore from the Australian Craniofacial Unit, said 18-year-old Emma's palate was working hard when she spoke, but not going far enough to close the space with the back of her throat.

"We had to look at operations to make her palate longer," Dr Moore said.

"We made a cut in her palate along the soft palate and then made cuts on either side like a 'z' - like Harry Potter sort of on the forehead."

The surgery was successful and Emma was thrilled to be finished with her surgeries.

"I really wanted to see the seal in the back of my throat to know that I was doing that properly, it was brilliant," she said.

"On the outside I don't look any different to anyone else, now all the surgeries are done.

"It's terrifying, but it's a good terrifying. It's amazing."

As is the case with many babies with cleft palate, Emma had difficulty breastfeeding, which was one of the motivations to operate within a year of her birth.

Another reason for doing the cleft lip or palate repair operation early is to allow more time for proper speech development.

If the initial repair surgery is delayed it can impede speech development.

But the timing of cleft lip and palate repair is a subject of some controversy in the medical community, because a compromise has to be made regarding risk, facial growth, scarring, and psychological factors.

Most plastic surgeons think the ideal age for undergoing cleft palate repair surgery is between 6 to 18 months of age, and even earlier for cleft lip repair.

(Supplied: Chris Sprod)

Most plastic surgeons think the ideal age for undergoing cleft palate repair surgery is between 6 to 18 months of age, and even earlier for cleft lip repair.

Not everyone can have surgery for cleft palate or lip repair early in life though.

This is particularly an issue in developing countries in Asia, where the one in every 500 babies has a cleft palate and lip compared to one in 1,000 in white populations.

"In the past in some Asian countries, it's been because of a deficiency in folic acid," Dr Prasad said.

"A deficiency in folic acid can cause increased risk of neural tube defects, which can increase risk of cleft palate or craniofacial disorders," he said.

Dr Prasad said that pregnant women taking anti-convulsive medication for epilepsy can also have increased risk of their baby having cleft palate or lip.

Going through the process of cleft repair surgery with your baby can be hard, but Dr Prasad and his colleagues try to encourage parents to be positive about the change they are experiencing, as well as that of their baby.

"We tell parents of babies with cleft lip to think of their baby as getting to have two different smiles," he said.

"They have one smile before the repair surgery, and a different one after the surgery, so we tell them to enjoy both of their baby's smiles."

Scientists are still trying to narrow down the causes of cleft lip and palate, but research suggests there is some sort of genetic link.

In 2018, scientists identified four genes that, when functioning correctly, lead to the tissues around the hard palate becoming 'sticky' and fusing together the two sides of the palate.

The study, published in the American Journal of Human Genetics, focused on families in which multiple people were affected by cleft lip or palate, suggesting there could be an alteration within a single gene, said Tony Roscioli from Neuroscience Research Australia, who was an author on the study.

"We were able to identify specific gene mutations that were present in people with cleft lip palate in a number of families," Dr Roscioli said.

"A single genetic cause that was highly predictive."

Of the 209 people from 72 families in the study, the four genes accounted for the cleft palate or lip in 15 per cent of them, a small but significant step forward in understanding the genetic causes of clefting, according to Dr Roscioli.

"It is premature for [finding specific treatments], but perhaps ways of altering the function of these genes could be identified in the future that could lead to non-surgical treatments," he said.

Dr Roscioli was involved in another study published this year in the journal Human Mutations which identified one new gene that causes a form of cleft palate that's associated with skeleton abnormalities, and another new gene that causes isolated cleft lip and palate.

"It increases the number of genes known but also [suggests] that the genes work together," he said.

"It can also mean that there are extra genes available for people who wish to have genetic testing for cleft lip and palate."

Go here to read the rest:
Cleft palate or lip is one of the most common birth defects worldwide, but do you know what it is? - ABC News

Daughter drew inspiration from mom in battle with breast cancer, stresses early detection – Gainesville Daily Register

Six weeks before Carla Klements wedding more than 35 years ago, Klements mother, Pat Walterscheid, was diagnosed with breast cancer. But the experience of the mother ended up inspiring the daughter when Klement faced her own battle with breast cancer almost three decades later.

I grew up thinking I could get it, Klement, a Muenster resident, recalled this week ahead of National Mammography Day, Friday, Oct. 18. She had long suspected she might be among the small number of people about one in 400 who have the breast cancer gene, a mutation in one of two genes labeled BRCA which makes a person significantly more susceptible to developing breast cancer, according to the National Breast Cancer Foundation Inc. Klement began getting yearly mammograms at age 30 because of her family history and theyd come back clear through March 2013.

In September that year, though, she felt a lump she could swear wasnt there the day before. She called her doctor to have it diagnosed as soon as possible and a biopsy confirmed it was stage 1 breast cancer.

Klement chose to undergo a double mastectomy and reconstructive surgery on Oct. 28, 2013, followed by 12 rounds of chemotherapy.

By the time I had the surgery, she said, her cancer had already progressed to stage 2, meaning it had invaded the lymph nodes.

Growing up, with her having it, we were told to do the self-exams and all that stuff but I didnt, as most people dont, Klement recalled. My main thing is early detection if you find something, have it checked out right away. Had I not, had I waited even two months, I dont know where it wouldve led since it was so aggressive.

The day you find it, go to the doctor. And if its nothing, great. Id err on that side rather than wait.

The National Breast Cancer Foundation pointed out on its website that with early detection, the vast majority of breast cancer cases can be successfully treated and thats true even for people who have a BRCA1 or BRCA2 mutation.

Carla Klement wearing one of her scarves in December 2013, while she was going through chemotherapy.

Klement said she struggled most with losing her hair during chemotherapy, finding strength in wearing a collection of printed scarves she purchased to wear instead of a wig. These became kind of like my armor, she said, holding one of the scarves this week.

She also looked to her mothers experience.

Because she was a survivor, my mindset was, she can do it, I can do it. Had she not been a survivor, my attitude may have been different. But I thought, well she can do it, then I can do it.

During the process, Klement chose to be tested for the BRCA gene and was found to have it.

I have two daughters of my own, so I wanted to do it for them, she said.

Klements mother, Walterscheid, also of Muenster, said shes had one recurrence of breast cancer since her diagnosis, single mastectomy and radiation and chemotherapy in 1984. In 2003 when she was diagnosed again, the cancer was treated with a lumpectomy, or a surgery to remove only part of the breast instead of the entire organ, followed by chemotherapy and radiation therapy.

Walterscheid continues to see her oncologist once a year. During her last visit, she had a 3D mammogram instead of a traditional one, she said, and thought it was more comfortable than traditional mammography.

Because its relatively new, 3D mammography isnt yet considered the standard of care for breast cancer screening, according to breastcancer.org. However, its being adopted more quickly than traditional 2D mammography was, the charity states on its website. According to 2018 statistics from the FDA, about 4,000 facilities out of 8,726 certified mammography facilities in the country offer 3D mammograms.

Both women say their initial diagnoses changed their attitude toward life.

Walterscheid, who still had two children in school in 1984, said it makes you wonder if youre going to live to see them grow up.

Ive got great-grandkids now, she added, smiling.

See original here:
Daughter drew inspiration from mom in battle with breast cancer, stresses early detection - Gainesville Daily Register

Deepak Chopra Has Never Been Sick – The New Yorker

Deepak Chopra, the doctor and self-help guru, who turns seventy-three next week, has written more than one book for every year he has been alive. Chopra was born in New Delhi and studied medicine in India before moving to the United States, in 1970. After practicing as an endocrinologist in Massachusetts, he became involved in the Transcendental Meditation movement. He eventually relocated to the West Coast, left T.M. behind, and became a spiritual adviser to Michael Jackson and other celebrities. A quarter century later, his books have sold millions of copies, and his television appearancesespecially alongside Oprah Winfreyhave made him perhaps the most prominent advocate for alternative medicine recognizable around the world.

Chopras work evinces a consistent skepticism toward the scientific consensushe has called into question whether evolution is merely a process of the mindand a firm belief that mental health can determine physical reality. He has written of a place called perfect healththe title of one of his books, and now the slogan for one of his wellness retreatsin which human beings can go somewhere internally that is free from disease, that never feels pain, that cannot age or die. These beliefs have made him controversial among doctors and scientists. In 1998, Chopra was awarded the satirical Ig Nobel Prize for his unique interpretation of quantum physics as it applies to life, liberty, and the pursuit of economic happiness. A random Chopra-quote generator is popular online, and Chopra has been called out for tweeting and writing phrases that, in the words of one paper, may have been constructed to impress upon the reader some sense of profundity at the expense of a clear exposition of meaning or truth. (Example: Attention and intention are the mechanics of manifestation.)

Chopras latest book is Metahuman: Unleashing Your Infinite Potential, and it touches on a number of themes that have been present throughout his career: that human beings can become metahuman by reaching a new place of awareness; that science has served to block the way to the absolute freedom that metahuman holds out; and that self-improvement can move creation itself. I recently spoke by phone with Chopra. During our conversation, which has been edited for length and clarity, we discussed controversial remarks he has made about cancer and AIDS, his claim to have never been even a tiny bit sick, and whether there is a reality that exists independently of our own minds.

How do you define yourself and what you do?

I would say that to define oneself is to limit oneself. But Ive had various roles through my life. Im an internist, an endocrinologist, a neuro-endocrinologist; a teacher of integrative medicine and an author; a husband, a son, a father, a child.

I know you are a doctor, but does thinking about yourself as a doctor seem limiting to you in some way?

It seems limiting to me, but I would say I think of myself closer to a healer. Because, when I look at healing and the origins of the word healing, its related to the word whole. So wholeness means everything, including body, mind, and spirit, and the environment. I think of myself as a doctor who is interested in the physical body, but also in all aspects of human experiencehuman emotions, human thinking, human experience, and, ultimately, in understanding ourselves beyond the conditioned mind. So I would say I want to be a healer. Thats my aspiration.

At what point in your career did you become famous?

Some people think it happened with The Oprah Winfrey Show, in 1993, when she did a one-to-one with me for a book called Ageless Body, Timeless Mind, which then stayed on the New York Times best-seller list for thirty-some weeks. Actually, my most well-known book is The Seven Spiritual Laws of Success. But I have to say that Oprah helped me a lot with the launch of my career, and shes been an ally ever since. Weve taught six million people meditation online together.

How many books have you written now?

This is my ninetieth book.

Would you say your writing process has changed between your first and your ninetieth?

Yes. My process was more structured in the past. And now I feel its more a flow than anything else. I used to always be told by media and publishers, and even the BBC when I was in England, to dumb everything down, and I used to, and I dont anymore. I feel free to say whatever I want to.

Ive been looking for a through line in your work, and the one that Ive noticed most is the idea that our minds can determine reality, or that theres a connection between our minds and reality. Is that a fair way of phrasing it?

Yes. The correct phrase would be that our experience of the world, and of our body, is a projection of our conditioned mind. So, when youre born, you have no human constructs. Youre looking at the world as a messy, gooey experience of color, form, shapes, sounds, pictures, smells, tastes, and random thoughts, which are yet not clear. But then a construction process begins. And so youre told, Youre male, youre of a religious background, ethnic background, nationality, gender. And that begins to create a provisional identity. And then that provisional identity has perceptual experiences but interprets them as the physical body and the world. But, in the deeper reality, theres no such thing. All there is is consciousness experiencing itself perceptually, as perceptual activity, which is species-specific. You dont see the same world as a painted lady, a species of butterfly that smells the world with an antenna, tastes the world with her feet. So what is the picture of the world to a snake that navigates through the experience of infrared?

If you and a snake perceive the world differently and experience it differently, does that mean that the world is actually different? Or does it just mean that we perceive it differently?

We can only experience a narrow band with our perceptual reality. So there is no such thing as a physical world. Thats where Im going. Our experience of the world is species- and culture-specific. And that is what we interpret as fundamental reality.

You once said, Consciousness is key to evolution and we will soon prove that. What did you mean?

You know, Ive said in the past that Darwinian evolution is a human constructthat, ultimately, consciousness drives at least human evolution. We can direct our evolution by the choices we make. And now that we know the science of epigenetics and neuroplasticity, we can see very clearly that, because we are self-aware, unlike other species, we can consciously direct our evolution. And that is what epigenetics and neuroplasticity are showing us.

Epigenetics is not that we can direct our evolution, though, is it?

Well, we can trigger the activity of certain genes and decrease the activity of certain other genes. So, when people practice self-reflection or mindful awareness, or they have the experience of transcendence, you can actually see which genes get activated and which genes get deactivated. Theres a mechanism to that. So you can actually activate the genes that cause self-regulation or homeostasis, and actually decrease the activity of the genes that cause inflammation. So what is healing? It is nothing but self-regulation or homeostasis. And what is disease is mostly linked to chronic inflammation. Only five per cent of disease-related gene mutations are fully penetrant, which means they guarantee the disease. That includes everything, from Alzheimers to cancer to autoimmune disease. Only five per cent is related to genetic determinism. The rest is influenced by life style. [Gerard Karsenty, the chair of the Department of Genetics and Development at Columbia University Irving Medical Center, says, Those assumptions include non-Mendelian diseases. It is for now hard to precisely assess in multigenic diseases the extent of the contribution of gene mutations and the one of lifestyle taken in a broad sense. This is particularly true for autoimmune diseases that hit at all ages, including during childhood and with a higher incidence in women.]

You tweeted, An emerging view, alternate to Darwins random mutations & natural selection is that consciousness may be the driver of complexity/evolution.

Correct. But there are a few people who agree with that.

So, you know, scientists generally are nave realists. Which means they look at the picture of the world, and thats what it is.

What do you do, if not that?

Ive become aware of that which is having the experience rather than the experience, which in spiritual traditions is called the self. The body, the mind, and the world are the self.

It seems like all of these things are fitting under the rubric of what we were talking about earlier about consciousness and reality. I know you once said something like, The moon doesnt exist unless someone sees it. Is that right?

No, no. That was Einsteins quote, by the way. He actually said, I refuse to believe that the moon doesnt exist if no one is looking at it. [In his biography of Einstein, Abraham Pais recounted an interaction he had with the physicist who asked me if I really believed that the moon exists only if I look at it.] Thats a statement coming from a nave realist. The moon that you and I see is a human experience. A horseshoe crab doesnt have that experience living in the depths of the ocean.

Einstein was incredulously asking someone whether they really believe that the moon only exists when its looked at. Correct?

Yes. The moon is an experience in human consciousness. The moon that you and I see is an experience in human consciousness. If there was no human consciousness, no body, mind to go with it, there would be no awareness of the moon.

But the moon would still be there, correct?

How do you prove that? How do you validate that? How do you disprove that? How do you prove an unobserved phenomenon?

The moon is a human story. The universe is a human story. Its a human construct, or human experiences, and interpreted by the human mind.

So this would be akin to the question, which Im sure weve all heard, that if a tree falls in the forest and no one hears it, does it make a sound?

Correct. The sound is only in consciousness. Before that its a vibration of air molecules.

But the vibration of air molecules are occurring. Correct?

The vibration of air molecules is a human construct for a human mode of knowing and experience in human consciousness, so yes, they are constructs. The air molecules are as much of a construct as latitude and longitude, as The New Yorker, as Greenwich Mean Time, as money, as Wall Street, as Manhattan.

Im not sure what that means.

Human constructs are human ideas around modes of human knowing.

I see.

So an atom, a molecule, a force field, vibration of moleculesthese are all human constructs.

So its not that the tree is making a sound and we just happen to be there or not there to hear it. Its that the sound is only present to the degree that we are also present.

Actually, there is no tree and there is no sound and there is no body and there is no mind. Theres only consciousness thats having an experience. The rest is human constructs.

In your book Quantum Healing, you wrote, Research on spontaneous cures of cancer conducted in both the United States and Japan has shown that just before the cure appears, almost every patient experiences a dramatic shift in awareness. He knows that he will be healed and he feels that the force responsible is inside himself, but not limited to him. It extends beyond his personal boundaries throughout all of nature. Suddenly he feels, I am not limited to my body. All that exists around me is part of myself. At that moment, such patients apparently jumped to a new level of consciousness that prohibits the existence of cancer. Then the cancer cells either disappear, literally overnight in some cases, or at the very least stabilize without damaging the body any further.

So if you were a scientist and you saw one case of that, one in a billion, youd want to know the mechanism. And I feel the mechanism is a return to fundamental homeostasis, which means self-regulation, and total absence of fear, including the fear of death. Because your identity is no longer your body-mind.

And so is that more important than medicine?

No, I think medicine is very useful for acute illness. If you have pneumonia, I certainly tell you to take an antibiotic. You break your leg, Id have you see an orthopedic surgeon. If you have cancer, there are many types of chemotherapy and radiation and stem-cell therapies and immunotherapies that will help you. But, in todays age, if you dont understand that integrating that with good sleep, with meditation, with stress management, with mindfulness, with healthy emotions, with good food that actually changes the activity of your microbiomeif you dont conform to that, then youre out of date.

This is from your book Perfect Health: There exists in every person a place that is free from disease, that never feels pain, that cannot age or die. When you go to this place, limitations which all of us accept cease to exist. They are not even entertained as a possibility. This is the place called perfect health. Visits to this place may be very brief, or they may last for many years. Even the briefest visit, however, instills a profound change. As long as you are there, the assumptions that hold true for ordinary existence are altered. If you can be in this place, why would you necessarily need medicine to stay healthy?

We dont. Ive never used medicine myself. Im seventy-three years old, never been in the hospital, never had surgery. Cant even remember having a cold.

You would vaccinate your children, correct?

Of course I would, if Im in a surrounding where there is... You know, I would not vaccinate a child in New York City for polio, because it doesnt exist. But I would for measles, because it does exist.

Even if the child was in this state that you call perfect health?

The child is in a state of perfect health if its born normally. Its in a state of homeostasis. But we also live in a world that has environmental toxins, that has climate change, that has extinction of species, that has poison in our food chain, and that is ready for extinction. And all of that is the projection of our collective insanity.

You say, The cause of disease is often extremely complex, but one thing can be said for certain: no one has proved that getting sick is necessary.

Right. My own situation says that.

Because youve never been sick.

Yes.

Because youre in this place called perfect health?

Because Im aware of being aware and I can choose the experiences I want and I focus on love, compassion, joy, equanimity, and Im beyond the fear of personal death because I dont identify with my provisional, personal, so-called identity. The question you asked me when we started, How do you define yourself?I dont.

If we were all in this place, would we need medicine?

Yes. Because of the world weve created, we would, yes.

But not because

And, besides that, the ecosystem is a predatory play of consciousness where, you know, its a recycling of experience. Birth, death, illness: they are part of our provisional identity, but I dont identify with that identity. If you do not identify with the experience, if consciousness that is aware of experience, if the awareness of experience is not the experience, then youre intrinsically free of the experience. Do you know what Im saying?

Im not sure.

O.K. If you are aware of a thought, then youre not the thought, youre the awareness of the thought.

Dr. Stacia Kenet Lansman, whos a leading vaccine skeptic, cited your work as an inspiration. Do you

I have never been against vaccination.

I know you havent.

I have never spoken against medical treatment or intervention. You should do whatever works.

But do you worry that the idea that we can achieve this place of perfect health based on our own mental state can give license to anti-scientific thinking, like we see in the anti-vaccine movement?

You asked me if I worry about that. I dont worry about anything.

Which is why you havent gotten sick.

But people can take what I say and interpret it how they want to. Theres also a difference between scientism and science. Science is a very neutral activity: theories, observation, experiments, validation or invalidation. Period. I am a big proponent of science as the greatest adventure that human consciousness has taken. With scientism, its a different thing. Its being a fundamentalist and believing that science has all the solutions for human problems, including the existential dilemmas we have about our identity, our fear of old age, infirmity, and death.

There was an interview you gave many years ago, with Tony Robbins, about AIDS. Hed put forth the idea that H.I.V. is not the source of AIDS. You said, H.I.V. may be a precipitating agent in a susceptible host.The material agent is never the cause of the disease.It may be the final factor in inducing the full-blown syndrome in somebody whos already susceptible. He then asked,Butwhat made them susceptible? You answered, Their own interpretations of the whole reality that theyre participating in. Do you still feel that way about H.I.V. and AIDS?

I still feel that pathogens are precipitating factors in susceptible hosts, and that the outcome of illness and recovery is very complex. Now, having said that, when you can find a single agent that you can either attack or get rid of, then, of course, thats the solution. You know, you and I can be exposed to a pneumococcus and one person gets pneumonia and the other doesnt. So you can see that illness is not just one mechanistic happening, an encounter with the pathogen. It has to do with everything. Are you deeply rested, are you stressed, whats your nutrition, what are your personal relationships, what is your emotional stateall of these things have an influence. Every experience we have is ultimately metabolized into a molecule in the body. If I gave you bad news right now, your blood pressure would go up. In fact, if I sent a mean tweet to Mr. Trump, his blood pressure would go up even further.

You went on to say, I have a lot of patients with so-called AIDS, this label that weve given them, that are healthier than most of the population thats living in downtown Boston. They havent had a cold in ten years. And then Robbins said, But someone has told them they have this disease. You said, Yes, somebody has told them that. And Robbins says, And they bought into it. And you said, Exactly.

Listen. You can do a five-hour interviewyou can edit it into any way you want. You can take statements out of context.

No, thats the whole context.

And then you can say, This is what you said. Right? I had that experience myself as a physician. I said to the patient, You have cancer. Immediately, he looked like he was going to have a stroke. He was going to faint. And then I realized I read the wrong chart and I said, Sorry, that was somebody else. In two seconds I could see him recover from high blood pressure, sticky platelets, a jittery heart, and so on. So, you know, there is a lot more to reality than just a simple diagnosis and the label.

But to go on to the point youre just making now, about diagnosis, when Robbins said about the diagnosis of AIDS, People are accepting this, and when they accept this, what happens to them? You replied, When they accept it, then they make it happen. It is a self-fulfilling prophecy. Is that what youre saying?

Yeah. I might have said that. And, if I did, I regret it.

What I say today is, Believe the diagnosis, but dont believe the prognosis.

Youve been criticized before for selling products that people claim can help cure cancer or other diseases via meditation.

No, Ive never claimed that. No.

Never?

If you find a reference of that, let me know.

Well, there was a video called Return to Wholeness: A Mind-Body Approach to Healing Cancer. And the release about it says, Meditation and visualization are two of the most

Right. That video was a program to help people visualize and get into a relaxed state. I believe it was promoted as that on my Web site until I became aware of it, and then it was taken off.

And then you took it down?

Yeah. It was actually an artificial-intelligence program for meditation and self-regulation. And, by the way, used at many cancer-therapy clinics across the world as an aid to relaxation. [A member of Chopras staff named Cancer Treatment Centers of America as one of the clinics that use the video, but a representative for the treatment centers was unable to verify this.]

So, when you say in your best-sellers, like Super Brain, that increased self-awareness can reduce the risks of aging and help people achieve freedom and bliss, do you feel that youre doing that at all, or not?

I am. Of course. Im seventy-three years old, and I dont think my biological age is seventy-three. In fact, I have publicly declared that I am slowing down my aging process. And I think you can go on social media and look at all the pictures over the last few years and you can see, physically, that I am not looking as old, or feeling as old, as I was twenty-five years ago. I know what Ive said is outrageous, but, if people actually listen carefully, they will see that they determine a lot of what goes into well-being and health. And, ultimately, I dont think that health is physical at all. Because, ultimately, we are all going to die, and all going to have some kind of infirmity. But most of what we do is creating anxiety from living a full life in the present moment.

So you feel that youve reached a different stage of human existence?

Im just following the example of people who have lived long, healthy lives without any infirmity and died peacefully in meditation. In the Indian tradition, its called mahasamadhithe big meditation.

When youre selling books by saying that theres a network of intelligence in the human body that has the potential to defeat cancer, heart disease, and even aging itself, is that not selling to people that cancer can be beaten by something other than medicine?

Have you read the book? Or have you read criticisms of the book?

Ive read several of the books, and some criticisms.

So then you have to make up your own mind. Im not a purveyor of false hope. In fact, I think the term false hope is an oxymoron. Either you have hope or you dont. And those that have hope do better than those who dont.

So there is no false hope?

Its up to you how you interpret this, and it doesnt actually affect me. You know, Im at a stage in my life where Ive gone beyond criticism and/or flattery. I dont need that.

Visit link:
Deepak Chopra Has Never Been Sick - The New Yorker

Quebec to cover revolutionary cancer treatment for types of leukemia and non-Hodgkins lymphoma – CTV News

MONTREAL - Quebec will now cover the cost of a breakthrough immunocellular cancer treatment for young patients with acute lymphoblastic leukemia, and adults with non-Hodgkin's lymphoma, who meet the criteria.

"The therapeutic value was demonstrated," said Health Minister Danielle McCann on Tuesday, adding, "this kind of immunotherapy treatment is the way of the future, and we are at the forefront."

The health care investment represents $35-million annually for the province.

CAR-T cell therapy was approved by Health Canada last year for the two life-threatening cancers, when standard first line treatments are ineffective, or when patients have suffered relapses. However, up until now, access to the treatment has been limited to patients who are part of studies.

Now that the therapy is on RAMQ's list, it's estimated about 60 adults and ten children will benefit annually in Quebec.

"It's exciting, because we actually empower the patient's own immune system to target and attack and destroy this cancer,' says Dr. Isabelle Fleury, a hematologist-oncologist at Maisonneuve Rosemont Hospital, one of two centres in Quebec where the treatment is offered.Its also where pivotal immunotherapy research was conducted, which helped lead to the therapys regulatory approval.

Six-year-old St-Jean-sur-Richelieu resident Olivia Labelle was treated with CAR-T two months ago at Ste-Justine Hospital, the second centre accredited to administer the therapy. "She did really great, and her leukemia is in remission," according to her pediatric hematologist-oncologist, Dr. Henrique Bittencourt, who calls the treatment "revolutionary."

Dr, Bittencourt cautions that CAR-T, an immunotherapy and gene therapy combined, is not always the answer. Some pediatric patients relapse, but Bittencourt says 50 per cent of patients are still in remission about three-and-a-half years later.

As young Olivia zoomed around a Ste-Justine hallway, only pausing to hang upside-down on a sofa next to her doctor, it was difficult to imagine how sick she'd been only months earlier. "It's reassuring," her mother Anabelle Soucy-Cote sighs. "We've learned to appreciate the good moments."

After two rounds of chemotherapy failed, 64 year old Richard Vallieres became eligible for CAR-T therapy to help him recover from non-Hodgkin's lymphoma. Dr. Fleury was there with him in his Maisonneuve-Rosemont Hospital room as he received his re-engineered immune cells on Tuesday. "Of those (adult patients) who respond to CAR-T, 70 per cent are still in remission two years later, so it's a giant step," Fleury says.

CAR-T stands for chimeric antigen reception T-cell therapy.

In simple terms, this is how the personalized treatment works:

Currently, the patient's cells have to be sent to the United States to be modified. There are plans to develop a similar type of cell transformation laboratory at Maisonneuve Rosemont.

Minister McCann told CTV other provinces are in the process of analyzing whether they will follow Quebec's lead. Two hospitals in Ontario are developing treatment centres of their own.

In the meantime, "Quebec will also be able to provide care for people who are coming from other provinces in Canada," the health minister explained.

See more here:
Quebec to cover revolutionary cancer treatment for types of leukemia and non-Hodgkins lymphoma - CTV News

John Geyman on the Failure of Obamacare the Medical Industrial Complex and the Single Payer Solution – Corporate Crime Reporter

Dr. John Geyman has been retired from medical practice for over twenty years now. But during that time, he has written more than twenty books as an emeritus faculty at the University of Washington.

Most of the books focus on the dysfunction of our medical industrial complex from the privatization of Medicare to Obamacare and Trumpcare and how we can replace it with pure single payer Medicare for all.

Lets go to some of the outliers first. You wrote a book called Flight is a Lifetime Passion.

I grew up in Santa Barbara during the war, Geyman told Corporate Crime Reporter in an interview last week. We were close to a Marine air base. I would look up and see B-17s or Wildcats fly over. I was always looking at the sky. I followed that closely as a teenager.

I wanted to fly in the Navy when I graduated from Princeton, but I flunked my eye test. Even though my eyes were better than 20/20, I had too much astigmatism. And if you are trying to land on a carrier with astigmatism, it doesnt work out well.

I didnt get to fly then, but I learned to fly during medical school and have flown regularly since those early years. Now I am a united flying octogenarian or UFO where I fly cancer patients regularly to the mainland from our island for chemo and radiation therapy.

It has always been a passion. And Ive had a number of airplanes, all small ones, some open air. Ive flown them across the country, including a biplane across from Texas to here in Washington. Flying has been an avocation for me. And Ive written several books on flying.

You wrote a book titled Souls on a Walk: An Enduring Walk Unbroken by Alzheimers.

Thats about my wife of 56 years Gene (Eugenia). She died of Alzheimers about eight years ago. She had a sixteen year course of Alzheimers. As is often the case in the early part, the signs are subtle. But I took care of her at home the whole way, except for the last four days in the hospital. I wrote about that and shared that experience and the whole problem of taking care of Alzheimers patients. She was an artist and painted a beautiful painting, even in the last few months. That book is a sharing of what it was like.

Do you have any insights into the causes of Alzheimers?

No. And there is still no cure on the horizon. There have been different theories as to the cause, but no one has nailed it down. The biggest risk is just growing older.

Most of your books deal with the healthcare system broadly. Your early books were The Modern Family Doctor and Changing Medical Practice (1971) and Family Practice: Foundation of Changing Healthcare (1980).

The first book where you deep dive on policy is Healthcare in America: Can Our Ailing System Be Healed? (2002).

I was trying to look at the whole system for the first time. I looked at the major trends decreasing access and increasing costs, specialization, increased technology. I looked at the politics, rationing in our free market society, lessons from other countries.

Then comes The Corporate Transformation of Healthcare: Can the Public Interest be Served (2005). Falling Through the Safety Net: Americans without Health Insurance (2005). Shredding the Social Contract: The Privatization of Medicare (2006).

Since then, Medicare has been privatized to a far greater degree. Medicare has effectively been corrupted. Now when you say Medicare for All, you are saying bring in a corrupted Medicare for All?

There always has been a pressure to privatize because there is a belief that the private sector is more efficient than the government sector. Thats fallacious. Traditional Medicare started in 1965 as a public single payer program for people over 65. But private insurers have always been pushing. And they say they can do it better. And they got government policy makers to go along.

The government has bailed out private insurers along the way with many billions of dollars in overpayments. It has been collusion with the federal government based on a theory that private is better. But it isnt. There is a huge amount of fraud in both Medicare and Medicaid. In Medicaid overpayments are endemic in more than 30 states, often involving unnecessary or duplicative payments to providers.

Is there any indication that a single payer system will be any better at deterring fraud than a multi-payer system?

Billing would be very much simplified. There would be negotiated fees with physicians, with other healthcare professionals that would be reasonable, fair and consistent. There would be negotiated global annual budgets with hospitals, nursing homes and other facilities. Right now, we have an electronic medical record which has become rapidly a billing instrument.

There are all kinds of daily profiteering on that. Two thirds of physicians are now employed by big hospital systems or in some cases insurance companies. The pressure on physicians is to upcode or say that you did more in that office visit than you actually did. The electronic record is a big part of the inflation in healthcare costs right now.

That would be reined in by simplifying the whole billing system under single payer.

You wrote a book in 2008 titled The Corrosion of Medicine: Can the Profession Reclaim Its Moral Legacy? Like the general population, doctors are split on the question of single payer.

There is a lot of distrust throughout our population of government and of Congress. One reason for the distrust is the privatization. There is also a lot of denial about the extent of the problem.

The polls show that 84 percent of Democrats support Medicare for All and even 52 percent of Republicans support Medicare for All.

But there are some polls asking if you were forced to give up your employer based insurance, would you still be in favor of Medicare for All? And those polls come out different.

The employer based system is being hyped by the coalition against Medicare for All. But its a very fragile system. Something like 40 million people lose their jobs or leave their jobs every year. And they lose their health insurance. The average person now has twelve different jobs before they get to be 50 years old. Its a very unstable system right now. And we would be much better off with a well run Medicare for All.

Under Medicare for All, 95 percent of Americans will pay less than they do now for health care and insurance. Its a no brainer if you look at the whole system.

In 2008, you came out with Do Not Resuscitate: Why the Health Insurance Industry is Dying and How We Must Replace It.

You say that we must replace it with a government run single payer. But its not just privatization that is undermining Medicare. Its also rampant government bureaucratization.

This is true. Its poor health policy. Its government at its worst bailing out the private insurance industry. That isnt to say that Medicare for All, well done, as it is in almost all advanced countries in the world western Europe, Canada, New Zealand, Australia, Scandinavia. There are solid approaches for determining fair fees, bulk purchasing of drugs and medical supplies lots of savings though decreased administrative costs.

The overhead of private insurers is 18 to 20 percent. Traditional Medicare is 2.5 percent in this country right now.

In 1995, Taiwan solved their health care problems with a solid Medicare for All system. I was in practice in Mount Shasta in 1965 when Medicare and Medicaid came in. It was seamless. A patient would come in and show me their card. And the question was how can I help you? Not whats your insurance, as is the first question today when you go to the doctor.

In 2015 you wrote a book titled How Obamacare is Unsustainable: Why We Need a Single Payer Solution for all Americans. You were not a fan of Obamacare.

I wasnt. The politics hijacked it. Now, nine years into Obamacare, it has failed to contain costs or improve quality of care. The Obamacare insurers limit patient choice and access through restrictive and changing networks. Often even a doctor in a network doesnt know he or she has been changed. And patients often find out after the fact. Premiums have gone up by profiteering private insurers. That continues. More than 27 million are not insured. And 84 million Americans are underinsured. Deductibles keep going up. Deductibles as high as $10,000 a year are in effect. Middle aged Americans are much more likely to die of heart disease than they were in 2010. Obamacare has failed to improve access and contain costs because the private insurers have such a big role in the system. And there is quite a bit of fraud out there.

You say the vast majority of Americans support single payer. If that is the case, why dont we have it?

There is a huge amount of disinformation and rhetoric in the debate over how we should proceed. And much of it is carefully used to discredit Medicare for All.

Dr. Don McCanne does the quote of the day for Physicians for a National Health Program. Here is how he frames the situation:

Im much more worried about our friends than our enemies. A decade ago our friends kicked us out of the negotiations and brought us Obamacare. By now we could have had everyone covered at a cost we could afford, but instead we have tens of millions of uninsured and underinsured who are losing their choices in health care while our national health care expenditures increase at twice the rate of inflation, all the while perpetuating suffering, hardship, and premature death.

[For the complete q/a format Interview with John Geyman see 33 Corporate Crime Reporter 38(13), Monday October 7, 2019, print edition only.]

Link:
John Geyman on the Failure of Obamacare the Medical Industrial Complex and the Single Payer Solution - Corporate Crime Reporter

Metastatic Breast Cancer: What You Should Know – University of Michigan Health System News

What are the symptoms?

Metastatic disease symptoms are tricky because they vary depending on where the cancer cells have spread, Henry says. Some symptoms might be caused by side effects of medication or they might be an indication of depression. Its important to explore the cause.

MORE FROM MICHIGAN: Sign up for our weekly newsletter

I always encourage a patient with a history of breast cancer to call us if she has a new symptom, especially if it sticks around longer than expected, she says.

These are some common symptoms of metastatic breast cancer by site:

Symptoms of bone metastases:

Symptoms of brain metastases:

Symptoms of liver metastases:

Symptoms of lung metastases:

What are the treatments?

Patients with metastatic disease are primarily treated with systemic therapies drugs that work throughout the body. These include chemotherapy, targeted drugs and hormonal therapy. Surgery or radiation may be used to slow the growth or reduce the size of tumors.

Identifying optimal treatment depends on the specific type of breast cancer, specifically the hormone receptor status and the HER2 status of the cancer.

There are many different types of breast cancer. Oncologists will conduct extensive testing of tumors, with sequencing, and look at specific findings to understand what the cancer might respond to best, Henry explains.

For example, patients with hormone receptor positive cancers are typically first treated with anti-hormone treatments such as an aromatase inhibitor or fulvestrant, often in conjunction with other targeted drugs. Those with HER2-positive cancer will receive Herceptin or other treatments directed against HER2 as part of treatment. In addition, women with a BRCA gene mutation may receive a PARP inhibitor as part of their treatment.

More and more treatments are being developed and approved, so we have many more options for treatment now than we did just five to 10 years ago, Henry says.

Do men get metastatic breast cancer?

Yes. But only about 1%-2% of all breast cancers occur in men, so the disease is not very common in men overall. But when it does occur in men, it can spread and become metastatic, Henry says.

What is the prognosis?

While there is no cure for metastatic breast cancer, there are treatments that slow the cancer, extending the patients life while also improving the quality of life, Henry says. Many patients now live 10 years or more after a metastatic diagnosis.

We are seeing improvements in how long people are living. The new types of medicines that are being approved treat the cancer and help with other symptoms. People are not only living longer, but they are also feeling better longer for the most part, which is very encouraging.

LISTEN UP: Add the newMichigan Medicine News Breakto your Alexa-enabled device, or subscribe to our daily updates oniTunes,Google PlayandStitcher.

How do clinical trials fit into the equation?

I think clinical trials in general are very important, because almost every drug we have in practice right now, we learned about through a clinical trial, Henry says.

The Rogel Cancer Center always tries to have clinical trials available for all patients, no matter the stage.

Ask your oncologist about the opportunity to participate in clinical trials, even if it hasn't been mentioned to you, Henry says. It's one way to get access to new exciting drugs, which may be beneficial.

What if a patient sees the term metastatic on an online pathology report before seeing the oncologist? Does that mean they have stage 4?

Because we have electronic medical records now, and everyone has fairly early access to documents like pathology reports, it can cause a lot of anxiety and be very confusing to a patient, Henry says. Sometimes a pathology report may say metastatic to lymph node. But that may not mean it is stage 4. It may simply mean the cancer has spread to an adjacent lymph node. Henry emphasizes that patients should talk to their doctor to understand their diagnosis.

What hope do you give patients with metastatic breast cancer?

We have seen quite a number of medications approved in the last few years. And we know that there are more medications being reviewed by the FDA for consideration of approval in the next few years, Henry says. Its an exciting time in oncology to have all these new treatments being developed.

I always stress to patients that I want to do everything I can to help them live as long as they can, while still maintaining quality of life, allowing them to do the things they want to do. We do our best to make sure that we adjust treatment schedules to allow people to attend graduations or family reunions, or a trip they want to be able to take, explains Henry.

We want to help them look forward.

Continue reading here:
Metastatic Breast Cancer: What You Should Know - University of Michigan Health System News

The facts about breast cancer awareness | News – The Albany Herald

ALBANY An important question to consider during this special months is What is breast cancer? Breast cancer occurs when normal cells in the breast mutate and grow uncontrollably.

Breast cancer is the most ubiquitous form of cancer in women worldwide. In the United States, an estimated 240,000 women will be diagnosed with breast cancer annually. Breast cancer continues to rank second, after lung cancer, as a cause of cancer death in women in the United States, and it is a leading cause of premature mortality for women. In 2012, deaths from breast cancer accounted for 783 000 years of potential life lost and an average of 19 years of life lost per death.

Screening describes the process of looking for signs of a particular disease, such as breast cancer, before a person has noticeable symptoms. The goal of screening tests is to detect cancer at an early stage when it can be treated and may be cured. Researchers hope to better understand those who are predisposed to a particular type of cancer. For example, they look at the persons age, their family history, and certain exposures during their lifetime, which helps the physician recommend who should be screened for cancer, which screening tests should be used, and how often the tests should be done.

Early detection has been shown to be associated with reduced breast cancer morbidity and mortality. Breast cancer screening detects the breasts for early signs of cancer in patients without any symptoms.

Mammography is the most common screening test for breast cancer.

Magnetic resonance imaging (MRI) also may be used to screen women who have a high risk of breast cancer.

Other screening tests have been or are being studied in clinical trials, including:

Screening tests for breast cancer are being studied in clinical trials.

Who should be screened for breast cancer? Opinions regarding optimal breast cancer screening age can differ. Its important to talk to ones doctor or nurse about the benefits and drawbacks of screening.

The American Cancer society commissioned a systematic evidence review of the breast cancer screening literature:

They recommend that women with an average risk of breast cancer should undergo regular screening mammography starting at age 45 years.

Women aged 45 to 54 years should be screened annually.

Women 55 years and older should transition to biennial screening or have the opportunity to continue screening annually.

Women should have the opportunity to begin annual screening between the ages of 40 and 44 years. Women should continue screening mammography as long as their overall health is good and they have a life expectancy of 10 years or longer.

The primary benefits of screening are to find cancer early and lower the chances of dying of breast cancer. Drawbacks include:

False-positive test results can occur.

False-positive results can lead to extra testing and cause anxiety.

False-negative test results can delay diagnosis and treatment.

Finding breast cancer may lead to breast cancer treatment and side effects, but it may not improve a womans health or help her live longer.

Mammography exposes the breast to low doses of radiation.

Pain or discomfort during a mammogram.

If these tests show any suspicious findings, a more detailed test is ordered. A biopsy is undertaken and sent for tissue diagnosis.

Treatment options for breast cancer patients include:

Mastectomy is surgery to remove the whole breast.

Lumpectomy is surgery to remove the cancer and a section of healthy tissue around it.

Radiation therapy that kills cancer cells.

Chemotherapy The medical term for medicines that kill cancer cells or stop them from growing.

Hormone therapy Some forms of breast cancer grow in response to hormones.

Targeted therapy Some medicines work only on cancers that have certain characteristics.

There are medications to help prevent breast cancer for women who are at high risk. Women with a strong family history of breast cancer should ask their doctor what they can do to prevent cancer. Genetic testing also assists in identifying genes that can cause breast cancer. Once an abnormal gene is identified, surgical and hormonal interventions can reduce or prevent breast cancer.

Cancers that can be screened:

Breast cancer The main test used to screen for breast cancer is mammogram.

Colon cancer There are multiple screening tests for colon cancer.

Cervical cancer Tests used to screen for cervical cancer is the Pap smear.

Prostate cancer Test used to screen for prostate cancer is a PSA test.

Lung cancer Test used to screen for lung cancer is a low-dose CT scan.

Ovarian cancer To screen for ovarian cancer, a blood test called CA 125, and an ultrasound, or both, are used.

Yash Jani, a senior at Deerfield-Windsor School, plans to study medicine upon high school graduation.

Here is the original post:
The facts about breast cancer awareness | News - The Albany Herald

What one doctor thinks about drug shortages and how to solve them – STAT

Cutting-edge science and the development of groundbreaking and lifesaving drugs get a lot of attention, but the everyday practice of medicine is often more mundane: It doesnt involve being CRISPRd or having gene therapy delivered into your cells. The truth is that most people who are very sick and visit their doctor get treated with very ordinary and sometimes very old drugs.

But in recent years supplies of some of these critical standby medicines have become disrupted. The shortages have forced doctors to make hard treatment decisions. Drugs have to be rationed or, in the worst cases, patients who need care can be turned away.

Dr. Ben Davies is a professor of urology at the University of Pittsburgh and a BioTwitter influencer (I dont think anyone has ever called me a BioTwitter influencer before, he says.). Davies recently chatted with STAT about the recurring problem of drug shortages.

advertisement

Youve had experience with shortages of a medicine called BCG. Whats the history of BCG and why is it so important for bladder cancer patients?

BCG is a very special and powerful antineoplastic drug. Its been around since the 1980s and Im sure you remember it being used for tuberculosis vaccination.

Its basically an attenuated microbacterium and it does three very powerful things. If you get bladder cancer thats non-muscle-invasive, it can prevent recurrences and it can stop progression of disease. That would be extremely helpful because bladder cancer can progress into your muscle, which requires a different form of treatment, like radical surgery. And it also can actually treat residual tumors that your doctor may not have seen on your initial look in your bladder. So its a very important drug. It has a great response rate of about 68%. Its very well-tolerated most of the time. I mean, its our first line of defense in treating non-muscle-invasive bladder cancer.

Why is BCG so vulnerable to shortages?

Because they make it in massive batches and if the batch goes bad, youre just basically done. And depending on how big the batches are, you could go for months making a big supply of it and then youre done if it gets contaminated. So its unlike making a pill where if you just notice a few bad pills you can throw them away and restart. This thing really makes you start again, like a few months later, and youre behind the eight ball.

Merck is the only company that makes BCG today. At one time Sanofi (SNY) was a supplier but it abandoned the drug in 2016. Are you surprised that a drug thats so widely used has only a single manufacturer?

Well, I would be surprised if I didnt know the economics behind it. The problem is that the barrier to entry is quite high and extremely expensive. You know, the Mylans of the world youd think would just jump into this market. But theres a huge barrier to get in there $100 million or more. That and the drug is relatively cheap. So youre not going to make much money if you jump in. Im not surprised there arent so many suppliers now. We need to change those things to make it a more sought-after and more manufactured drug.

Were saying: We dont have the drug thats going to help you and that its going to cost you more.

Dr. Ben Davies, University of Pittsburgh

I mean, I am surprised that Merck has done such a Im gonna use a urologic term piss-poor job of making it since 2016. So weve had a good almost three years of years of problems getting the drug just their problem basically of getting it to patients and I dont know why they havent done a more robust response to the need. I mean, its not like the actual amount of bladder cancer patients changes over time. Its pretty stable. They know how much they need. They just havent been able to do it.

As a physician, when you have a patient before you with bladder cancer, what do you do when BCG is in short supply or not in supply at all?

When its not in supply at all, we go to alternative drugs like mitomycin, which is much more expensive. I wrote a small paper in the New England Journal about how as soon as BCG is unavailable, the price of mitomycin spiked by four times. But we go to other drugs. If we dont have enough, we stop something called maintenance therapy in a lot of patients. Thats a time when you get the drug continually only to help stop recurrences and wed lower the doses. So therere a few things we can do, which seems to be OK. But its certainly not as efficacious as getting the whole drug.

If you had power or influence over the supply of BCG, what would you do to try to make the drug more plentiful?

Oh, God, I think the number one thing, and Ive said this publicly and Ive written about it, you have to think, unfortunately, even though Im a card-carrying liberal, you have to raise the price of the drug. If manufacturers arent going to make any money on the drug, theyre simply not going to be that interested in making it. And thats just the system we live in. So if we dont do that, then we can think about federal mandates, but that has not worked well in the history of drug problems and shortages. So in my view, you have to increase the price and find a willing manufacturer, unlike Merck, that is willing to make the drug correctly and in appropriate amounts.

BCG is not the only drug thats often in short supply. At any given time there can be dozens, sometimes hundreds, of older medicines that appear on the FDAs drug shortage list. Do you think this problem is getting enough attention?

I dont think its really in peoples wheelhouse because they dont see it. I mean, I see it every day.

Its really a horrific situation. When I sit down with the patient, I tell him I cant give you the drug. It has such a great response rate. Instead Im going to give you an inferior drug that has a poor response rate. And by the way, its four times as much money, which is an important consideration in many of the medical plans that have people pay considerable amounts of money out of pocket for their drugs. And thats basically what were saying: We dont have the drug thats going to help you and that its going to cost you more. So its a major problem.

Much of this issue is tied up in the economics of how drugs are bought and paid for in this country. Recently Jeremy Corbyn in the U.K. proposed starting a government-run generics manufacturing establishment over there and there was a similar plan that Elizabeth Warren had described in terms of getting the government involved. What do you think of that as an idea for an issue like BCG?

I think it would work for BCG. I mean, I kind of mentioned my political stripes so I dont mind government intervention when its necessary. We already have this program, by the way. The governments heavily involved right now in getting appropriate vaccinations to people and supports it with its own money. It doesnt have the manufacturing capabilities. I think we need some sort of federal mandate where that means they have the private sector contracted or something like that. And I think that I would be completely in support of that for issues like this.

Theres another company proposing to do this a little bit. Nothings actually happened, but a conglomerate of universities were all going to come together and make, like, saline and epinephrine and all these bizarre drugs that we dont have available. Civica Rx. It sounds like a great scheme, but nothings ever actually happened. Its been mostly talking.

I was talking to my good friend Amitabh Chandra from Harvard who is a health economist about this. He says that a lot of this, he thinks, could be solved by better distribution. In other words, right now if I have enough BCG in my hospital but the hospital across the street does not have any, theres no real easy mechanism for me to give them that BCG, even though I could. There is a massive sort of inter-hospital or between-physician lack of communication and resources to exchange drugs or therapies with ease. You can imagine theres a good reason for that, for regulatory reasons.

But there is an opportunity, I think, to increase abilities to hand off drugs to other people easier and that would obviously alleviate some of the problems.

A good example of that is we can commonly have doctors in the community who dont have any BCG at all for whatever reason and so then those patients will come to see me, often many hundreds of miles to get BCG because their doctor cant get any. Well, thats silly. Why cant I ship that BCG to that doctor? So I mean theres things like that which can be done which would ameliorate the situation. But the bottom line is that we have a failure of manufacture. We have a failure, really, of imagination on how to fix this problem. This has been going on since at least 2012. Just nothing has ever happened to fix it.

Let us know when you start the BCG socialist collective.

Want me to start one?

This is a lightly edited transcript from a recent episode of STATs biotech podcast, The Readout LOUD. Like it? Consider subscribing to hear every episode.

See the article here:
What one doctor thinks about drug shortages and how to solve them - STAT

Beyoncs father diagnosed with breast cancer – Houston Chronicle

Mathew Knowles, music executive and father of Beyonc, has been diagnosed with breast cancer.

Knowles, 67, told Good Morning America Wednesday that he had a mastectomy to remove the cancer and is planning a preventive one in the other breast because testing found he has a genetic mutation for the disease. The mutation, BRCA2, means his children including Beyonce and Solange have a 50 percent chance of carrying the gene too.

The BRCA2 gene sharply increases the risk of breast and ovarian cancer in women. In men, it increases the risk of prostate, skin and pancreatic cancer in addition to breast cancer.

Knowles said he wanted to share his story to draw attention to the fact men can get breast cancer too. About 2,500 men are diagnosed with the disease annually, about 1 percent of all breast cancers.

Treatment for male breast cancer is similar to treatment for female breast cancer surgery, chemotherapy, radiation therapy and targeted therapy. Most male patients undergo a full mastectomy instead of a lumpectomy, the removal of just the tumor and small amount of surrounding tissue. Survival for male breast cancer is slightly lower than female breast cancer, mostly because it tends not to be diagnosed until men are older and the disease is more advanced.

Knowles medical journey began when he began noticing red dots on his undershirt and bed sheets. He squeezed his right nipple and blood came out.

The next day, Knowles saw his doctor, who sent a sample for further testing and then ordered up a mammogram. The mammogram found a Stage 1 tumor, among the earliest and easiest to treat. Follow-up testing revealed Knowles has BRCA2, prompting his plans to have a second mastectomy in January.

Besides bleeding, other signs of possible male breast cancer are a lump under the nipple or arm. Medical experts advise men who notice such symptoms to see a doctor for further evaluation.

Knowles is best known for managing Destinys Child. He also managed the careers of Beyonc and Solange.

Read more:
Beyoncs father diagnosed with breast cancer - Houston Chronicle

Study Measures Prognosis for Breast Cancer Patients with High 21-gene Recurrence Score Receiving Adjuvant Chemotherapy Plus Endocrine Therapy -…

A recent study published in JAMA Oncology analyzed outcomes for patients with early breast cancer with a high 21-gene recurrence score who underwent adjuvant chemotherapy plus endocrine therapy. The outcomes were superior compared to those associated with endocrine therapy alone.

The 21-gene recurrence score (RS) assay provides prognostic information for distant recurrence in hormonereceptor-positive, ERBB2-negative early breast cancer that is independent of clinicopathologic features, and is also predictive of chemotherapy benefit when the RS is high, the authors reported, adding, In this report we provide a descriptive analysis of clinical outcomes, characteristics, and adjuvant chemotherapy regimens for patients with an RS of 26 to 100 assigned to receive chemotherapy, including regimens largely including taxanes and/or anthracyclines, plus endocrine therapy.

The study was a secondary analysis of outcomes associated with the TAILORx trial. The multicenter, randomized clinical trial included women with hormone receptorpositive, ERBB2-negative, axillary node-negative breast cancer who had a high 21-gene recurrence score of 26 to 100. Patients received adjuvant chemotherapy, selected by the treating doctor, in conjunction with endocrine therapy. The primary outcome measure was freedom from breast cancer recurrence at a distant site and freedom from recurrence, second primary cancer, and deathor invasive disease-free survival (IDFS).

Of the 9,719 eligible total patients (mean age [range] 56 [23-75] years), 1,389 (14%) had a recurrence score between 26 and 100; of the high recurrence score group, 598 (42%) had a score between 26 and 30 and 791 (58%) had a score > 30. Regarding chemotherapy regimens, most patients (n = 589, 42%) received docetaxel/cyclophosphamide; 334 (24%) received an anthracycline without a taxane, 244 (18%) received an anthracycline and taxane, 52 (4%) received cyclophosphamide/methotrexate/5-fluorouracil, 81 (6%) received other regimens, and 89 (6%) did not receive chemotherapy.

After five years, the freedom from breast cancer recurrence at a distant site rate was about 93.0% (standard error [SE], 0.8%). Breast cancer recurrence at a distant and/or local regional site freedom was about 91.0% (SE, 0.8%); IDFS was about 87.6% (SE, 1.0%), and overall survival was about 95.9% (SE, 0.6%).

The authors wrote in sum, The estimated rate of freedom from recurrence of breast cancer at a distant site in women with an RS of 26 to 100 treated largely with taxane and/or anthracycline-containing adjuvant chemotherapy regimens plus endocrine therapy in the prospective TAILORx trial was 93% at 5 years, an outcome better than expected with endocrine therapy alone in this population.

Original post:
Study Measures Prognosis for Breast Cancer Patients with High 21-gene Recurrence Score Receiving Adjuvant Chemotherapy Plus Endocrine Therapy -...

Beyonc’s father Mathew Knowles has breast cancer: Here’s what you need to know about the disease in men – Yahoo Lifestyle

Mathew Knowles, father of Beyonc,recently announcedthat hes being treated for breast cancer coming as a surprise to many who still dont understand that, while its relatively rare, men, just like women, can be diagnosed with the disease.

I need men to speak out if theyve had breast cancer, hetold Good Morning America on Wednesday. I need them to let people know they have the disease, so we can get correct numbers and better research Men want to keep it hidden, because we feel embarrassed and theres no reason for that.

Knowles reports that he had a unilateral mastectomy the surgical removal of all breast tissue in July, and plans to have his second breast removed in January. That, he says, should reduce the risk of recurrence meaning a metastasis, which is the spreading of breast cancer cells to another part of the body, for which there is no cure from 5 percent to 2 percent.

Breast Cancer Awareness Monthis October, making it the ideal time to learn more about the disease, which, while rare, will affect about 1 in 833 men and 1 in 8 women over a lifetime. In 2019, there will be about 2,670 new cases diagnosed in U.S. males, according to theAmerican Cancer Society(compared with the estimated 268,600 cases in women).

Heres what else you need to know about male breast cancer.

Yes, men have breasts.

We are mammals also, Harold Burstein, MD, a breast oncologist with theDana-Farber Cancer Institutein Boston, tells Yahoo Lifestyle. But while men do have breasts, we obviously dont undergo the secondary developmental changes that come for women with puberty and then pregnancy, which could contribute to the confusion around men having breast tissue, he says. But mostly why you dont hear about men having breast cancer so much is because the incidence is very rare, with roughly one male case for ever 100 womens cases.

Its the same disease that affects women.

Fundamentally, the breast cancers are more or less the same, Burstein says. Up to 90 percent of cases in men have thehormone-receptor statusknown as estrogen-receptor positive and HER2 negative, he says. The male symptoms a painless lump or thickening of breast tissue; changes to skin in the breast area (such as dimpling or scaling), changes in nipple appearance; or nipple discharge (as with Knowles) are the same as in women. The treatment approach, such as surgery, radiation, chemotherapy or hormone therapy, are also the same. Ounce for ounce, Burstein says, men have outcomes very similar to that of women although since we dont do mammograms on men, sometimes its found later.

Thats why its important for men to have a general awareness of their bodies, and, if they notice changes or something that doesnt seem right, Burstein says, they should head to their doctor and have it checked out.

Our slogan is, Dont be afraid to touch yourself for a reason, explains Bret Miller, founder of theMale Breast Cancer Coalition.

You dont hear about male breast cancer too much because it comes with a powerful, silencing stigma.

Its a womens disease, its emasculating, men cant get it because we dont have boobs, are all reasons that some men associate male breast cancer with shame, according to Miller, a breast cancer survivor. He founded the coalition as a supportive resource six years ago, and says, There still are people that do not know that men can get breast cancer. Its crazy. Thats why its important for people like Knowles to speak out about being diagnosed, adds Miller to help build awareness for early detection, to help create strength in numbers and, ultimately, to fuel the push for more research thats specific to breast cancer affecting men.

Theres historically been a lack of research into male breast cancer, but that may be about to change.

Such research is now being officially pushed by the Food and Drug Administration (FDA), according to anAugust draft guidance encouraging the inclusion of male patients in breast cancer clinical trials. Less than one percent of all breast cancer cases occur in men, but men are more likely to be diagnosed at an older age and have a more advanced stage of disease. As breast cancer in men is rare, they have typically not been included in clinical trials for breast cancer treatment. This has led to a lack of data, so their treatment is generally based upon studies and data collected in women, notedRichard Pazdur, MD, director of the FDAs Oncology Center of Excellence and acting director of the Office of Hematology and Oncology Products in the FDAs Center for Drug Evaluation and Research. While some FDA-approved treatments are gender-neutral in their indication, many therapies are only approved for women and further data may be necessary to support labeling indications for men.

It's just as important for men as it is for women to get tested for BRCA gene mutations.

One of the rare known causes of breast cancer in men is a hereditary predisposition, accounting for a somewhat larger percentage of male breast cancer than female breast cancer, Burstein says. (Other risk factors include aging, family history, having the congenitalKlinefelter syndrome, and radiation exposure.) And Knowles has shared that hisBRCA test a blood test using DNA to identify mutations in breast cancer susceptibility genes (BRCA1 and BRCA1) showed he has a mutation on his BRCA2. As a result, he said he has four things to be concerned about: prostate cancer, pancreatic cancer, melanoma and breast cancer. The rest of my life I have to be very aware and conscious and do all of the early detection: constant mammograms, constant prostate exams, MRIs.

Burstein stresses that all men diagnosed with breast cancer should be tested for gene mutations, which mostly relates to opportunities for prevention such as indicating a double mastectomy, instead of single, with the second being preventative. Also, since having the mutation raises the risk for the other cancers Knowles mentioned, knowing you have it would theoretically push men to get regular screenings.

Those with a BRCA2 mutation, in particular, will have about a 6 in 100 lifetime risk of developing breast cancer,Leigha Senter-Jamieson, a licensed genetic counselor at the Ohio State University Comprehensive Cancer Center, tells Yahoo Lifestyle. So most wont get it, she says, but that risk is still much, much higher than the usual risk for men, which is about 1 in 100.

Sometimes men arent asked about their family history of breast cancer or ovarian cancer at their checkup, Senter-Jamieson notes even though the answers could indicate whether or not they should be tested for BRCA gene mutations. Something else men are not often aware of when it comes to these mutations, she says, is that it impacts their kids the same way it would with a woman yet another reason to get tested.

When high-profile people share their stories, it does a good thing, she adds, both for the people getting tested and for people, like myself, asking the questions of patients.

Read more from Yahoo Lifestyle:

Want daily pop culture news delivered to your inbox? Sign up here for Yahoo Entertainment & Lifestyles newsletter.

Original post:
Beyonc's father Mathew Knowles has breast cancer: Here's what you need to know about the disease in men - Yahoo Lifestyle

Genentech to Present Results of First Prospective Trial Using Blood-based Next Generation Sequencing Which Successfully Identifies People for…

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), will today announce positive results from a single-arm cohort of the Phase II/III Blood First Assay Screening Trial (BFAST), the first prospective study to use only blood-based next generation sequencing (NGS) to detect specific fusions with the aim of selecting treatment for people with advanced non-small cell lung cancer (NSCLC), without the need for tissue biopsy. Results from the anaplastic lymphoma kinase (ALK) cohort will be presented at the European Society for Medical Oncology (ESMO) 2019 Congress on Monday, September 30 from 9:15 9:30 a.m. CEST (Abstract LBA81 PR) and were also part of the official ESMO press program.

Obtaining tumor tissue for biomarker testing can be a challenge in many people with cancer and, as a result, some may not receive optimal treatment for their disease, said Sandra Horning, M.D., chief medical officer and head of Global Product Development. BFAST is the first trial to show that by using a blood-based next-generation diagnostic, it is possible to identify the ALK mutation in people with non-small cell lung cancer using a blood draw alone, which means that more people could potentially benefit from Alecensa.

Foundation Medicine is pleased to partner with Roche on this study, a first-of-its-kind, pivotal trial that directly demonstrates the clinical utility of using our comprehensive blood-based assay, FoundationOne Liquid, to detect specific fusions and match NSCLC patients with first-line treatment, said Brian Alexander, M.D., chief medical officer of Foundation Medicine. Validated and comprehensive liquid biopsy tests are critical to help physicians find the best possible treatment approach for patients with advanced cancer and for whom tissue testing isnt feasible. Identifying ALK fusions can be particularly challenging and these data demonstrate that FoundationOne Liquid can accurately predict which patients can respond to therapy.

The BFAST study used FoundationOne Liquid, Foundation Medicines comprehensive liquid biopsy test, which detects the four main classes of genomic alterations, microsatellite instability (MSI) and select fusions including ALK in circulating tumor DNA (ctDNA) from a blood draw. These data demonstrate that the FoundationOne Liquid assay can help to test and identify a broader population of people with advanced NSCLC who may benefit from Alecensa, for whom current diagnostic tests are not suitable, such as for those who cannot provide tissue samples due to insufficient or absent tumor tissue, or where tissue diagnostics are not available, and validate the clinical utility of blood-based NGS as an additional method to inform clinical decision-making in ALK-positive NSCLC.

In the study, 87.4% (95% CI: 78.5-93.5) of people with advanced NSCLC who were identified by the FoundationOne Liquid biopsy assay to have ALK fusions had a confirmed response to treatment with Alecensa (overall response rate; ORR) as measured by the investigator per Response Evaluation Criteria in Solid Tumors (RECIST v1.1). This is consistent with the ORR for Alecensa observed in the pivotal Phase III ALEX trial, which identified people using tissue-based testing. When measured using an Independent Review Facility per RECIST v1.1, the confirmed ORR was numerically higher at 92.0% (95% CI: 84.1-96.7). Median progression free-survival (PFS) and duration of response (DoR) were not reached after a median follow-up of 12.6 months. The safety profile of Alecensa was consistent with prior clinical trials and post-marketing experience, with no new safety signals observed.

About the BFAST study

BFAST (Blood First Assay Screening Trial) (NCT03178552) is a Phase II/III global, multi-center, open-label, multi-cohort study evaluating the safety and efficacy of targeted therapies or immunotherapies as single agents or in combination in people with unresectable, advanced or metastatic NSCLC determined to harbor oncogenic somatic mutations or be tumor mutational burden (TMB)-positive as identified by blood-based NGS ctDNA assays. The Alecensa ALK-positive cohort is the first to readout, with other cohorts due to follow. The primary endpoint for the Alecensa ALK-positive cohort of the BFAST study is confirmed investigator (INV)-assessed ORR. Secondary endpoints include: independent review facility (IRF)-assessed ORR, DoR (INV and IRF), PFS (INV and IRF), overall survival (OS) and safety.

About lung cancer

According to the American Cancer Society, it is estimated that more than 228,000 Americans will be diagnosed with lung cancer in 2019, and NSCLC accounts for 80-85% of all lung cancers. It is estimated that approximately 60% of lung cancer diagnoses in the United States are made when the disease is in the advanced stages.

About Alecensa (alectinib)

Alecensa is a kinase inhibitor approved for the treatment of people with anaplastic lymphoma kinase (ALK)-positive metastatic non-small cell lung cancer (NSCLC) as detected by an FDA-approved test.

Alecensa U.S. Indication

Alecensa is a kinase inhibitor approved for the treatment of people with anaplastic lymphoma kinase (ALK)-positive metastatic non-small cell lung cancer (NSCLC) as detected by an FDA-approved test.

Important Safety Information

Everyone reacts differently to treatment with Alecensa. Its important to know the most serious and most common side effects with Alecensa.

A doctor may lower the dose or stop treatment with Alecensa if any serious side effects occur. Patients taking Alecensa should contact their doctor right away if they have any of the following side effects.

Alecensa may cause serious side effects, including:

Liver problems (hepatotoxicity). Alecensa may cause liver injury. A doctor will do blood tests at least every 2 weeks for the first 3 months and as needed during treatment with Alecensa. Patients taking Alecensa should tell their doctor right away if they experience any of the following signs and symptoms:

Lung problems. Alecensa may cause severe or life-threatening swelling (inflammation) of the lungs during treatment. Symptoms may be similar to those symptoms from lung cancer. Patients taking Alecensa should tell their doctor right away if they have any new or worsening symptoms, including:

Kidney problems. Alecensa may cause severe or life-threatening kidney problems. Tell your healthcare provider right away if you have a change in the amount or color of your urine, or if you get new or worsening swelling in your legs or feet.

Slow heartbeat (bradycardia). Alecensa may cause very slow heartbeats that can be severe. A doctor will check a patients heart rate and blood pressure during treatment with Alecensa. Patients taking Alecensa should tell their doctor right away if they feel dizzy, lightheaded, or faint during treatment with Alecensa. Patients taking Alecensa should tell their doctor if they take any heart or blood pressure medicines.

Muscle pain, tenderness, and weakness (myalgia). Muscle problems are common with Alecensa and can be severe. A doctor will do blood tests at least every 2 weeks for the first month and as needed during treatment with Alecensa. Patients taking Alecensa should tell their doctor right away if they have any new or worsening signs and symptoms of muscle problems, including unexplained muscle pain or muscle pain that does not go away, tenderness, or weakness.

Before taking Alecensa, patients should tell their doctor about all medical conditions, including if they:

Patients taking Alecensa should tell their doctor about all the medicines they take, including prescription medicines, over-the-counter medicines, vitamins, and herbal supplements.

Patients taking Alecensa should avoid spending time in the sunlight during treatment with Alecensa and for seven days after the final dose of Alecensa. Patients taking Alecensa may burn more easily and get severe sunburns. Patients taking Alecensa should use sunscreen and lip balm with a SPF 50 or greater to help protect against sunburn.

The most common side effects of Alecensa include:

These are not all of the possible side effects of Alecensa. For more information, patients should ask their doctor or pharmacist. Patients should call their doctor for medical advice about side effects.

Report side effects to the FDA at (800) FDA-1088 or http://www.fda.gov/medwatch. Patients and caregivers may also report side effects to Genentech at (888) 835-2555.

Please see additional Important Safety Information in full Prescribing Information, including Patient Information.

About Foundation Medicine

Foundation Medicine is a molecular information company dedicated to a transformation in cancer care in which treatment is informed by a deep understanding of the genomic changes that contribute to each patient's unique cancer. The company, a member of the Roche Group, offers a full suite of comprehensive genomic profiling tests to identify the molecular alterations in a patient's cancer and match them with relevant targeted therapies, immunotherapies and clinical trials. Foundation Medicines molecular information platform aims to improve day-to-day care for patients by serving the needs of clinicians, academic researchers and drug developers to help advance the science of molecular medicine in cancer.

For more information, please visit http://www.foundationmedicine.com or follow Foundation Medicine on Twitter (@FoundationMedicineATCG).

About Genentech in Lung Cancer

Lung cancer is a major area of focus and investment for Genentech, and we are committed to developing new approaches, medicines and tests that can help people with this deadly disease. Our goal is to provide an effective treatment option for every person diagnosed with lung cancer. We currently have five approved medicines to treat certain kinds of lung cancer and more than 10 medicines being developed to target the most common genetic drivers of lung cancer or to boost the immune system to combat the disease.

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercializes medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit http://www.gene.com.

Excerpt from:
Genentech to Present Results of First Prospective Trial Using Blood-based Next Generation Sequencing Which Successfully Identifies People for...

Nearly Half of Poland’s SMA Patients on Track to Get Spinraza, Experts Say – SMA News Today

Poland is rolling out Biogensspinal muscular atrophy (SMA) therapy Spinraza (nusinersen) at a faster pace than any country that has approved it, Polish experts say.

Since the first injection in May 2019, about 400 of the 830 patients in Polands SMA registry have either started taking Spinraza or been put on a waiting list to obtain it, according to Kacper Rucinski, president of Warsaw-basedFundacja SMA. A commission of top neurologists is steadily adding patients to the list after determining that they qualify for National Health Service coverage of the treatment.

Longtime SMA expert Anna Lusakowska, a doctor at the Warsaw Medical University Neurology Clinic, predicted that Polish patients who want Spinraza will eventually get the medicine.

However, not all 830 will opt for it, said Rucinski, who along with Lusakowska spoke with SMA News Today by phone. Some patients with the muscle-wasting disease are receiving Roches risdiplam or Novartis branaplam in clinical trials. They would likely stay with their current treatments once those two medications are approved by the Health Ministry and covered by the national health insurance program.

Spinraza is very expensive; both risdiplam and branaplam also will be, upon approval. The U.S. retail price of Spinraza is $750,000 for the first year and $375,000 in subsequent years, although Poland, like all members of the European Union, negotiated its own price with Biogen.

Spinraza first became available in 2017 to a few dozen Polish patients under Biogens expanded-access program. In December 2018 18 months after Spinraza received European Union approval Poland authorized its National Health Service to pay for it.

Hospitals in three of Polands 16 regions spearheaded Spinraza treatment in 2017. Lusakowskas hospital, in the Masovia region which includes Warsaw joined them last year.

Not only did most of the regions outside Warsaw have no experience with Spinraza; they had never even treated SMA patients before, said Lusakowska, who started Polands SMA registry in 2010.

About 120 of Polands SMA patients live in the Warsaw area. As a result, the neurology programs at Warsaw Medical University and Childrens Memorial Health Institute in Warsaw became leaders in treating the disease decades ago.

After the national health insurance program began covering Spinraza, Lusakowskas neurology department decided to administer the medicine to as many people with SMA as possible. Thats led to long hours for staffers, but also has allowed Lusakowskas team to develop a level of expertise solid enough to share with inexperienced practitioners in other regions.

Patients with severe curvature of the spine are a special challenge, even if they have had previous surgery to correct their scoliosis, she said.Radiologists at Lusakowskas clinic use a computerized tomography (CT) scanner to administer injections to individuals with badly curved spines. The scanner shows the best locations for injecting those with scoliosis.

Four months after Polands first non-early-access injection, all regions are offering Spinraza, although it hasnt been easy, Lusakowska said. The surge in Spinraza patients since May has overwhelmed neurological clinics, which in addition to SMA deal with strokes, epilepsy and many other nerve-related conditions.

Lusakowska began her neurology career as an SMA specialist in the mid-1990s, just asscientists were discovering the cause of SMA defects in the SMN1 gene.She and other SMA specialists hoped researchers would develop a therapy quickly.

I worked with SMA patients for 30 years before a treatment came, Lusakowska said. Its really wonderful that I can finally do something for them.

The first Spinraza injection is emotional for patient, family and doctor alike, she said.

Usually the patient cries, the mother cries they have been waiting such a long time for this, she said.

Lusakowska said she can deal with the expressions of joy, even if they include tears. Its harder when the emotion is the anguish of patients calling to complain that they have had to wait such a long time for Spinraza but are still not receiving it, she said.

Like most countries, Poland prioritizes Spinrazas roll-out by age and disease severity. Children younger than 3 years old withSMA type 1 the worst form of the disease get top priority because research has shown they can benefit the most.

Adults with advanced stages of SMA are believed to gain less from treatment, though the main focus of Lusakowskas clinic is adults. She and her colleagues are administering Spinraza to 35 people in their 20s and older with different types of SMA, and expect to treat 70 eventually.

The 35 include seven type 1 patients. Six began taking Spinraza in Belgium under the expanded-access program, but returned to Poland after the National Health Service agreed to cover the treatment costs. The clinic also treats several children above the age of 3.

Lusakowska said Spinraza benefits all her SMA patients. Some improvements are obvious to doctors, while others are not but patients say it is helping them. Within a year, her clinic will have enough month-to-month, muscle-strength comparison data for a scientific assessment of Spinrazas effectiveness.

Some improvements have been amazing, Lusakowska said. That is the case, for example, with a 4-year-old Polish girl with SMA type 2 who began taking Spinraza in France when she was a few months old. Doctors had diagnosed her SMA in the womb after her older brother developed type 2. He also receives Spinraza.

Her brother is improving all the time with Spinraza, Lusakowska said. He is not walking, but he is much stronger. But his sister, who began receiving Spinraza when she was 3 months old, is walking, jumping, dancing shes a normal girl.

Another heartening sign is that, thanks to Spinraza, some patients who had been on detachable ventilation devices 16 hours a day have been able to reduce that to 10 hours a day.

Similarly, some patients say their voices are becoming much stronger as Spinraza strengthens their larynx muscles, Lusakowska said.

She praised the Health Ministry for deciding to cover all SMA patients who want Spinraza, rather than restricting it only to those in certain categories.

We dont have to turn anyone away, she said. We can tell all our patients that maybe not this month, but next month, we can treat you.

Hal Foster is a veteran journalist at the Los Angeles Times and other news organizations in the United States and Japan, and a longtime journalism professor.In addition to the LA Times, he worked at the Portland Oregonian and the Seattle Post-Intelligencer, was executive editor of Pacific Stars & Stripes in Tokyo, and wrote about the war in Ukraine for USA Today.He has a Ph.D. in journalism from the University of North Carolina, and has taught in the United States, Kazakhstan and Ukraine, where he was a Fulbright scholar.

Total Posts: 85

Ana holds a PhD in Immunology from the University of Lisbon and worked as a postdoctoral researcher at Instituto de Medicina Molecular (iMM) in Lisbon, Portugal. She graduated with a BSc in Genetics from the University of Newcastle and received a Masters in Biomolecular Archaeology from the University of Manchester, England. After leaving the lab to pursue a career in Science Communication, she served as the Director of Science Communication at iMM.

View post:
Nearly Half of Poland's SMA Patients on Track to Get Spinraza, Experts Say - SMA News Today

Three to be honored as Distinguished Clay High School Alumni – Press Publications Inc.

Eugene Gene Gulish, Michael P. Dansack, Jr. and John S. Szuch will be among the honorees at the Distinguished Alumni & Athletic Hall of Fame Banquet Thursday, Oct. 3 from 6-10 p.m. at St. Michaels Centre, 4001 Navarre Ave., Oregon. Eugene Gene Gulish was born June 10, 1937, in Curtice, where his parents had a restaurant and small farm. When he graduated in 1955 from Clay High School, he was the first in his family to do so. He attended the University of Michigan, planning to be a high school biology teacher, but he decided hed rather teach at a university. He earned a Masters Degree in Embryology and a Doctor of Medicine Degree from The Ohio State University. He did his internship and residency at LA County-USC Medical Center, and a four-year orthopedic residency followed. It was during this time that he decided to enter private practice. Gulish was drafted into the Army as a Major and was sent to Fort Polk, Louisiana. He was an orthopedic surgeon while there, and operated on many wounded soldiers from the Vietnam War. He received the Army Commendation Medal upon his discharge in 1971. He started a private practice in Sebastopol, California. About this time, arthroscopic surgery was introduced. He performed the first total knee replacement north of San Francisco and the second total hip replacement. Gulish moved to Paris, Tennessee, in 1994 because they were in desperate need of an orthopedic surgeon. At age 82, he was still practicing three days a week. All of his children work in healthcare one is an orthopedic surgeon, two are physicians assistants, one works with autistic children, and one teaches marriage and family therapy on the college level. Early in his career, Gulish realized how much he enjoyed medical mission work. He has traveled many times to a mission hospital in Kolo Ndoto, Tanzania. In 2010, he traveled to Haiti to assist earthquake victims. He traveled to Nigeria on a medical mission trip to Nigeria in June. Michael P. Dansack, Jr., graduated from Clay High School in 1978, and went on to the University of Toledo College of Engineering, graduating in 1982 cum laude with a Bachelor of Science in Industrial Engineering. He subsequently graduated from the Toledo College of Law in 1985. He is a partner at the law firm of Gallon, Takacs, Boissoneault & Shaffer. He participates on a bi-weekly basis on 13abcs Ask the Expert segment, providing answers to viewers legal questions during the noon newscast. Dansack served on Oregon City Council from 1983-89, serving as president from 1984-89. He earned the distinction of being the youngest person in Oregons history to be elected as mayor at the age of 29. He served as mayor from 1989-93. He has been an elected member of the Educational Service Center of Lake Erie West Governing Board from February 2010 to the present, serving two years as board president. His community service also includes serving on the Toledo-Lucas County Library Board, the Lucas County Mental Health Board, the Harbor Behavioral Health Care Board of Trustees, the St. Charles Mercy Hospital Advisory Board of Trustees, the Oregonian Club, the Oregon Plan Commission, the Oregon Growth Corporation and Bethany House. He participated in several volunteer activities, including coaching from 1978-1985 for the Oregon Recreation Department and coaching for the Anthony Wayne Recreation Department. He was an announcer for the Clay High School Fighting Eagle Marching Band from September 1978-November 1988. Dansack provided pro bono legal services in 2000 to the Clay High School Athletic Boosters, Inc., including the incorporation of a non-profit corporate entity and application for a 501(c)(3). He also offered his services to the Oregonian Club Charitable Fund for the same services. His services in 1997 to the Clay High School Stadium Renovation Fund, Ind., included the creation of a non-profit corporate entity. John S. Szuch graduated from Clay High School in 1966. He earned a Bachelor of Business Administration and an MBA from The University of Toledo. He completed the University of Michigan Graduate School of Banking and Financial Services Program and is a graduate of the Sheshunoff banking programs. Szuch was employed in various lending and management positions at Trustcorp, Toledo from September 1973 through June 1988. As senior vice president of Trustcorp, he was responsible for the operation of the Metropolitan Banking Division. He was a co-founder, chairman and chief executive officer of Capital Bank, N.A., a $1 billion organization which opened for business in August 1989. Capital Bank merged into Fifth Third Bancorp on March 9, 2001 with a total transaction value of approximately $250 million. Formerly chairman of Fifth Third Bank of Northwestern Ohio, a $3 billion subsidiary of Fifth Third Bancorp, he is currently an executive officer and member of the board of directors of Signature Bank, N.A., a $800 million regional bank headquartered in Toledo. Szuch is a member of St. Johns Jesuit High School Foundation Board, chairman of their Technology Center Fund Campaign and chairman of their Setting the Pace capital fund drive. He was an Ernst and Young Entrepreneur of the Year in 1996, and received the University of Toledo Pacemaker Award in 2005. Szuch currently serves on the Trustee Committee of the University of Toledo Foundation and as the chairman of the Toledo-Lucas County Port Authority. He is also a trustee and member of the Finance Committee of the Toledo Symphony Orchestra, and a trustee and chairman of the Toledo Museum of Art Finance Committee. He serves as a trustee of Second Harvest Community Services of Northwest Ohio and a trustee and finance chairman of St. Ursula Academy.

See the original post:
Three to be honored as Distinguished Clay High School Alumni - Press Publications Inc.

Pollard and Norris in the race for Pos. 2 of the Public Hospital District 4 – Snoqualmie Valley Record

Dariel Norris and Gene Pollard are competing for Position 2 of the King County Hospital District No. 4. The district comprises the cities of Snoqualmie, North Bend and Carnation, as well as unincorporated and rural areas nearby.

Norris has a Bachelor of Science degree from the University of Washington and has the occupations of hospital registered nurse and small business owner. She has also served on the King County Parks Levy review board and the Snoqualmie Valley Community Network board.

Pollard has degrees from the University of California, Riverside and Occidental College. He also attended the Naval War College where he earned a diploma. Pollard is a retired foreign service officer, Navy commander, according to his candidate statement on the King County Auditors Office website.

Biggest health care problem facing Snoqualmie/the health care district?

Norris: I would say the ability to meet the specific health care needs of the local community. The 2016 Community Health Data Report identified the following issues for the Hospital district: access, cancer, heart and lung disease, mental health, smoking, substance abuse, diabetes, homelessness for adults and youth, all with serious health consequences.

Pollard: The major problem facing the district is the long-term indebtedness of $100 million, the greatest of any comparable hospital in the U.S. This didnt just happen overnight; it took years to accumulate. I attribute this to poor financial planning and incompetent policy making, especially by the hospital boards finance committee headed up by commissioners David Speikers and Dariel Norris. Committee meetings were briefly open to other commissioners and the public under former superintendent Tom Parker, who left a year ago to take a position with Mammoth Hospital in California. But now the committee has decided to again close its meetings, so financial decisions come to the board for rubber-stamping without dissenting opinion or transparent discussion.

How do we address this problem?

Norris: At present, the hospital district hasnt been able to reach out to the local community with supporting programs that aggressively address the above issues. Many who live in the district dont realize the hospital has clinics, physical therapy or an infusion program. Lab services as well as endoscopy and colonoscopies are available. We have an X-ray department with not only an Xx-ray machine but also MRI and CAT scan machines. In addition, we also have an infusion program. Even if your primary doctor isnt part of the Snoqualmie system, you can still have your test done close to home and have the results sent to your primary doctor. I believe the district needs to aggressively reach out to our local community, find ways to let them know what we have to offer. I would like to see programs such as nutrition classes from a dietitian or exercise classes from the physical therapy department. I would like the district to have support groups for those caring for family members with Alzheimers or dementia. I think day surgery and particularly orthopedics would be an asset for the community. Snoqualmie Valley Hospital has significant strengths. I sit on the quality committee. We get data that compares us with other local facilities. Based on the data we consistently do very well. If there is an issue, the staff addresses it immediately.

Pollard: Any organization $100 million in debt is in trouble by definition, especially where public money is involved. Whats needed is change change at the top in the finance committee, and in the position of the interim superintendent. The district needs to do a national search to identify a superintendent with prior success in hospital leadership, preferably including experience restoring financially-troubled hospitals. The district also needs greater transparency and accountability in district operations. For example, the proposal for a new hospital was pitched to the community on the basis that the old hospital would be sold for $30 million to the Snoqualmie Tribe and a new hospital would cost $38.6 million. That sounded reasonable, but then the district failed to demand payment when due. With $28.5 million still owed, the district discounted the sale price by half, thereby losing about $10 14 million. I voted against the discounting. Ive often been criticized for my No votes, but the fact is that if other commissioners had voted the way I have during my tenure, there would be no $100 million debt. Equally important to the success of this or any hospital is its communication with the public. The district is deficient. In fact, a local newspaper gave the hospital the grade of F in communicating with the public. Public information and advice on health issues have been missing, especially regarding preventative health. The public is uninformed about whats going at the hospital. They dont attend board meetings, held in the hospital basement, and there is essentially no media coverage. Importantly, the district needs to complete the Community Health Needs Assessment (CHNA) required by the Affordable Care Act and also by the IRS to justify the hospitals tax-exempt status. This is required every three years and must follow specific instructions. The districts 2016 CHNA was a quick and dirty copy of Overlake data and did not comply with the instructions. The 2019 CHNA is becoming overdue, which means the district will be out of compliance. An updated CHNA would assist the district in choosing and budgeting for health care priorities that would benefit the community.

In which direction do you foresee health care in the city/district moving?

Norris: Health care, in Snoqualmie and throughout the country, is struggling with payer models as well as a physician shortage which is growing daily. To meet the needs of Snoqualmie, we need to provide additional services. Services for the very young to the very old and everyone in between. The services need to be close to home and readily available.

Pollard: Because of the indebtedness, the district is now desperately seeking an affiliation, currently with Overlake Medical Center of Bellevue. Overlake is considering a short-term lease arrangement, perhaps five to seven years, which I dont consider viable. More importantly, I dont find Overlake to be a suitable partner. This is based on evaluations by national rating organizations, which dont list Overlake among the top six hospitals in the Puget Sound area. Its also based on my own experience as a patient at Overlake. The district has made many mistakes over the years (witness the debt). I feel that any decision to affiliate with Overlake, whereby this private hospital would take over all hospital operations, would be a historic mistake. It should be noted that Overlake would not bring one dime to the partnership, in contrast to the merger that occurred between Swedish Medical Center and Stevens Hospital in Edmunds. The Everett Herald reported that Swedish planned to invest as much as $90 million in that partnership over 10 years. In contrast, Snoqualmie would receive no funds from Overlake that might be used to help offset its long-term debt.

What are your budget priorities?

Norris: I was appointed to the finance committee six years ago. I was shocked to see some of the unnecessary extravagant expenditures. This is no longer the case. We have streamlined the executive staff. We have continued to budget with priorities in mind to reduce the debt while meeting the health care needs of the community. The present hospital was built with revenue bonds, not tax-backed dollars. The revenue bonds require a sizeable amount of cash on hand. Which we continue to maintain. The finance director suggested we invest those funds instead of letting them sit in the bank at a low interest rate. After a presentation, the chair of the finance committee, made a recommendation to invest those dollars. I believe this to be one of the most responsible choices and decisions the board of commissioners has made. We have also benchmarked as a way of discovering what is the best performance being achieved. This information can be used to identify gaps in an organizations processes in order to achieve a competitive advantage.

Pollard: My budget priority is to focus on austerity throughout the district. This includes looking at every position to make sure its really needed and properly compensated. I believe that some remain only because of the cronyism of prior administrations. A properly qualified new superintendent would be able to tighten things up and ensure the effective and economical operation of the district. Snoqualmie Valley Hospital and the Ridge Clinic belong to the taxpayers and residents of the district, not to hospital administrators or to the personal agendas of commissioners. Everyone associated with hospital governance and operations must remember they have a sacred trust to be good stewards of public funds.

Gene Pollard

Gene Pollard

View original post here:
Pollard and Norris in the race for Pos. 2 of the Public Hospital District 4 - Snoqualmie Valley Record

Gene therapy drug priced at $2 million saves North Carolina babys life – WTKR News 3

Please enable Javascript to watch this video

NORFOLK, Va. -Kaeli Prices piercing cry is a joyful noise to her mom and dad.

She'll be screaming right in your face and all we can think is that we're just so thankful that we can hear her now, said Kelli Price, Kaelis mother.

When Kaeli was born in March, you could barely hear her cry and more signs signaled something wasnt right.

We started noticing she wasn't holding her head up like some babies would normally do, said her mother. So we started to worry a little bit.

Their pediatrician in Belvidere, North Carolina began to worry, too. He sent them to see Dr. Crystal Proud, a pediatric neurologist at Childrens Hospital of The Kings Daughters. The doctor specializes in Spinal Muscular Atrophy. Its the top genetic killer of infants.

The babies that were diagnosed with this disorder passed away from losing the ability to breathe because those muscles became so weak, explained Dr. Proud.

The doctor said the source of the disorder is a missing or mutated gene which keeps the babies muscles from developing. Most diagnosed with SMA die by the age of two. Ten babies a year are diagnosed with the deadly condition in Virginia. At just eight weeks old, testing confirmed Kaeli Price was one of them.

We were overwhelmed, said Kaelis mother.

We felt powerless, said Brandon Price, Kaelis father.

Dr. Proud started Kaeli on a drug called Spinraza, which has shown promise in babies with SMA since it was approved by the FDA in 2016. It requires an injection into their tiny bodies every four months for the rest of their lives.

Not long after Kaelis initial treatment on Spinraza, a newly approved gene therapy drug called Zolgensma hit the market. It would essentially give Kaelis body the missing gene, and it would only require one dose. However, the drug came with a price tag of $2.1 million. The Price familys insurance covered it, allowing Kaeli to be the first baby in Virginia to be treated with Zolgensma under FDA approval.

I can't even describe how thankful we are, said Mrs. Price.

I hope and I expect that she will sit, stand, and walk. She will go through school and just excel, said Dr. Proud. And at some point well down the road she will have her own family that she can tell the story to.

Zolgensma has come under scrutiny because of its multi-million dollar price tag.

Dr. Proud, who was part of the clinical trials for the gene therapy drug, said it is actually cost effective when you weigh the billions of dollars it takes for clinical trials and the medical bills a child would incur without the drug.

Dr. Proud said beginning this year, all newborns in Virginia will be tested for SMA. The earlier doctors can intervene, preferably within the first few weeks of life, the better their chances for treatment.

Link:
Gene therapy drug priced at $2 million saves North Carolina babys life - WTKR News 3

Here’s What Happened to Dr. Sharpe on ‘New Amsterdam’ Details! – Distractify

Here's What Happened to Dr. Sharpe on 'New Amsterdam' Details!AcceptBrowsers may block some cookies by default. Click accept to allow advertising partners to use cookies and serve more relevant ads. Visit our privacy policy page for more information.Source: Karolina Wojtasik/NBCBy Amber Garrett

1 day ago

The good news for New Amsterdam fans who love Helen is that the oncologist, portrayed by Freema Agyeman, survived her injuries in the horrific ambulance accident that ended Season 1. However, there seems to be a significant obstacle jeopardizing her future at the hospital, in the form of a former rival.

The three-month time jump revealed medical director Max Goodwin has been placed under a new doctor's care, Dr. Valentina Castro. When we saw her occupying Helen's office, we felt a pit in our stomachs.

While showrunner David Schulner says it was always going to be Georgia who would not make it, the fervor of "Sharpwin" shippers almost changed that outcome.

"We have a huge fan base who all they want is to see Max and Sharpe together," he said in an interview with TVLine. He says that's "not in the cards now," and since Georgia's death would seem to open that possibility up, he had reservations.

"We don't want them to be together," he continued. "They're the best of friends, and that's the relationship that we're really excited to explore: two adult friends who love and care for each other."

While it's unlikely they would have killed off Helen instead, a change of plans may have affected Lauren Bloom's fate or lessened the impact of the finale by having none of the three women die.

While Helen's still around, she seems to be back in her role as ambassador for the hospital, promoting the revolutionary gene therapy treatment that seems to have Max on a path to being completely cured of his cancer. While that outcome obviously is fantastic news for everyone, including Helen, it does reveal a troublesome rivalry.

Doctors Castro and Sharpe clearly have a history, as it's revealed Helen once fired Valentina. Now that the latter's promising gene therapy research seems vindicated, she's using it to bargain for essentially co-running Helen's department. While Dr. Sharpe ultimately agrees to that arrangement, I doubt that will clean up all the bad blood between these two.

There also seems to be a clear rift between Max and Helen after the accident, and not just because they've removed the complicated doctor-patient dynamic of their relationship. It's too soon to tell whether Max's coldness is a product of his grief or something larger.

However, it's clear from the showrunner's comments about the importance of Max and Helen's friendship that there's no danger of the latter being written out of the story anytime soon even if the nature of that relationship won't satisfy Sharpwin shippers!

New Amsterdam airs Tuesdays at 10 p.m. ET on NBC.

View original post here:
Here's What Happened to Dr. Sharpe on 'New Amsterdam' Details! - Distractify

Why the focus of autism research is shifting away from searching for a ‘cure’ – NBCNews.com

When Lizzie Acevedos fraternal twin sons, now 15, were newly diagnosed with autism, she was hopeful about diets and vitamin injections that were being touted as miracle treatments or even cures.

Around age 4, the boys were on a gluten-free, casein-free diet, and for a couple months they mainly ate a special organic brand of chicken nuggets. Wheat products or anything else with gluten were out, as were dairy foods containing the milk protein casein. Acevedo also started giving vitamin B12 injections, prescribed by a Defeat Autism Now! doctor, to her son Omar, who is nonverbal and has more significant intellectual disabilities than his brother, Jorge, who speaks and is more independent.

Back then, I just needed something to make things better, Acevedo said. She tried the treatments for a few months but stopped when she didnt see a noticeable effect.

Now, a decade later, Acevedo has heard about lots of hyped alternative approaches for autism, most recently worrisome reports of parents giving their kids bleach drinks or enemas. However, shes also learned there arent any quick remedies for autism, which affects brain development and is characterized by difficulties with communication and social skills and by restricted interests and repetitive behaviors.

Theres no cure for autism and anybody who tries to sell you a cure is lying, Acevedo, a single parent and a fifth grade teacher in Los Angeles, said.

But she understands why parents of autistic children can fall prey to scams. Ive been where they are now, and I know how desperate it feels to want to get your child to be better, she said.

When autism research started to really accelerate a couple decades ago, many scientists thought finding a cure might be easier. Today, the latest science points away from a single cure, but there are ways to help autistic people lead healthier, happier lives and more that can be done to help.

I think that given the complexity and the variability of the causes and the manifestations of autism, trying to come up with a cure is probably not the right approach, said autism researcher and psychologist Len Abbeduto, director of the University of California, Davis, MIND Institute in Sacramento.

An estimated 80 percent of autism cases involve genetic factors, and it tends to run in families, but there is no single autism gene, Abbeduto explained. In fact, research has shown that more than 100 genes, and maybe upwards of 1,000, may play a role. Researchers also suspect that environmental factors such as exposures to infectious agents, pesticides or other toxins in pregnancy may play a role.

Scientists are investing a lot of work into understanding the genes but were also realizing its a lot more complicated than anybody ever thought when they started out, psychologist Ann Wagner, national autism coordinator for the U.S. Department of Health and Human Services, said.

Its highly likely that there are different causes for different kinds of ASD.

We do know that its highly genetic, we just havent identified how particular kinds of genes might interact with each other or with other factors to cause autism spectrum disorder, Wagner said. Autism is such a heterogenous disorder, so its highly likely that there are different causes for different kinds of ASD.

These research developments come amid growing controversy over whether autism even needs a cure. Autism Speaks, an advocacy and research group founded in 2005, removed the word cure from its mission statement in 2016.

In the beginning, [researchers] were looking more for the magic bullet, the magic pill. We were looking for the autism gene, and we thought that would ultimately lead to some kind of cure of autism, psychologist Thomas Frazier, chief science officer at Autism Speaks in New York, said. Then we recognized that we were way off base.

Now, researchers have turned much of their attention to identifying autism in children as early as possible in hopes of intervening sooner with therapies to try to alter the developmental trajectory of their young brains. While skilled practitioners can diagnose autism in toddlers at 18 to 24 months of age with some research indicating there are detectable signs in babies as young as 6 months most kids arent diagnosed until age 4.

Katarzyna Chawarska, a professor of child psychiatry who leads Yale Universitys Autism Center of Excellence in New Haven, Connecticut, is studying signs of autism in babies. The reason why we are focusing so much on early diagnosis is that it is our hope that by intervening early, we can capitalize on still tremendous brain plasticity that is present in the first, second, third year of life, she said.

The goal, Chawarska said, is to help alleviate the symptoms and make sure that every child with autism reaches their full potential.

If youre trying to get rid of autism, youre trying to get rid of us.

Doctors, for instance, would like to minimize any intellectual disabilities and help patients communicate better and improve socials skills. They also want to quickly identify and address any medical conditions that often accompany autism, such as seizures, gastrointestinal problems, sleep disorders, Attention Deficit Hyperactivity Disorder and anxiety.

Researchers already are seeing positive results with interventions such as behavioral treatments and speech therapy in toddlers.

One of the things that we do know is that intensive early intervention improves outcomes for kids, so the earlier we can intervene the better, Abbeduto said.

The idea of curing autism also has become highly controversial with the growth of the neurodiversity movement, which emphasizes respecting and valuing all people for who they are, regardless of whether they are neurotypical.

The C word raises a lot of attention in the community at large, said Michael Maloney, executive director of the Organization for Autism Research, a group in Arlington, Virginia, that funds research to improve the daily lives of autistic people. The largest objection is from people with autism who see themselves as independent and competent and dont see themselves as broken and needing to be fixed.

Among the critics is Julia Bascom, executive director of the Autistic Self Advocacy Network, a Washington, D.C.-based group that is run by autistic people, including herself.

Self-advocates have been largely successful at saying this concept of a cure is really offensive, she said. Who we are is OK, we just need support.

Bascom isnt opposed to research and therapies that help autistic people as long as they arent trying to strip them of their autistic traits.

If youre trying to get rid of autism, youre trying to get rid of us, and thats something our community takes really personally, she said. There are certainly a lot of co-occurring conditions like epilepsy that a lot of us have that wed like to not have. But we dont tend to feel that way about autism and we get really concerned when we see all this money going into risk factors and causation and genetics as opposed to finding out why autistic people tend to have shorter lifespans, or why our suicide rate is nine times higher than average, or what autism really looks like in adults.

Some of her other questions include why girls and people of color are diagnosed later in life, why autism has so many co-occurring conditions, why people with autism tend to react differently to medications, and why they engage in self-injurious behaviors, such as head banging and skin scratching.

Like Acevedos boys, a growing number of teens and adults are living on the autism spectrum, but Bascom and others say there is far too little research on understanding how autistic people are affected across their lifespan and how to help them live life to the fullest. Most autism research dollars in the United States go toward understanding the biological underpinnings of autism in order to diagnose and treat young children.

Autism research spending in the U.S. totaled more than $364.4 million in 2016, the latest year for which figures are available, with 80 percent of that money coming from federal agencies and 20 percent from private organizations. Of the spending, just 2 percent went toward autism lifespan issues and 5 percent toward services, according to the governments Interagency Autism Coordinating Committee. An additional 35 percent went to biology, 24 percent to risk factors, 16 percent to treatment and interventions, 10 percent to infrastructure and surveillance, and 8 percent to screening and diagnosis.

Paul Shattuck, director of the Life Course Outcomes Research Program at the A.J. Drexel Autism Institute in Philadelphia, and a member of the scientific council of the Organization for Autism Research, agrees that not enough attention is paid to adults with autism.

Were expending a lot of effort for very young children with autism, but as a society we kind of drop the ball once these young people become young adults, he said. Theres really not much there for autistic adults or their families in terms of services or even thinking how to support autistic people across the lifespan.

There arent exact figures on the total number of Americans with autism but by one estimation 3.5 million people are on the spectrum, and diagnoses have been increasing. About 1 in 59 children are on the autism spectrum, according to the latest Centers for Disease Control and Prevention figures from 2014, up from 1 in 150 kids in 2000. While some of the increased prevalence may be a true increase in autism cases, the CDC says that a broader definition of the autism spectrum and improved diagnosis efforts likely contributed to the higher numbers.

By Shattucks latest research estimates, 70,000 to 80,000 or more autistic youths per year will turn 18. Thats close to a million people over the next decade, he said, highlighting an urgent need for research to address the health and well-being of autistic adults.

Autistic kids are eligible for special education services while they are in school, and services can last until age 21, but help is harder to come by after that. When teens exit high school, they fall off what is called the services cliff, Shattuck said. It becomes much more difficult to find help and services once kids age out of eligibility for special education. And the young adult outcomes and the adult outcomes are pretty dismal frankly.

After high school, most young autistic adults do not have jobs, career training or additional educational opportunities. Autistic adults also struggle to find independent living arrangements, maintain friendships, get involved with community activities or have enough money to pay for their needs, said Shattuck, whose center helps autistic people and their families with paperwork for Medicaid, Social Security, group housing and more. Many autistic adults continue to live with their parents, raising concerns about what happens when the parents pass away.

Wagner, the national autism coordinator, agrees there needs to be more research on autism across the lifespan and said the government is trying to attract and fund more research in this area.

Just like parents everywhere, Acevedo wants the best for her kids. But after Omar and Jorge finish high school and special education services end, she wonders and worries about what the future holds.

I would love to see some more money put into the transition of young adults with autism into the most independent living situation they can get, Acevedo said. I would love to see money put into job training, taking the skills that these children have because everybody has skills, something that they can do and just really refining it and making these kids marketable to where they can earn some sort of income. Theres something about getting a paycheck and having your name on it as an adult that means so much, and Im sure its going to mean a lot to my kids.

Shattuck says helping autistic adults or those with disabilities ultimately helps everyone.

Our organizations and our communities function better when we make space for everyone of all abilities, he said. Its about helping ourselves and helping our communities be better, higher quality places for all of us.

Follow NBC HEALTH on Twitter & Facebook.

The rest is here:
Why the focus of autism research is shifting away from searching for a 'cure' - NBCNews.com

Targeted Therapy | Treating Mesothelioma – Mesothelioma Hub

Cancer is a devastating illness. Mostly, because of how rapidly it spreads to other areas in the body. Because of this danger, researchers are developing treatments that have the ability to specifically target abnormal cells and then slow or stop those cells from growing and spreading. This method is known as targeted therapy. As scientists discover more about gene and protein changes, their focus is to develop new drugs that hone in and target those changes.

Targeted therapies offer an alternative treatment option to chemotherapy and radiationwith less severe side effects. The reason why there are fewer side effects is because targeted treatment specifically targets abnormal cells, versus chemotherapy and radiation, which cant distinguish between abnormal and healthy cells.

Malignant mesothelioma is an aggressive, fatal disease that has seen rising cases over the past 60 years. A person with mesothelioma cancer is generally experiencing tumor growth in the lining (mesothelium) of the lungs, abdomen, or heart (pleura, peritoneum, or pericardium). Within the past few years, researchers have been testing the use of targeted therapies on mesothelioma patients in clinical trials.

There are two primary types of targeted therapies: monoclonal antibodies and molecule medicines. Molecule medicines are small enough to dive into cancer cells and obliterate them, and monoclonal antibodies fight cancer cells on the surface, or surrounding areas, and are too big to slip into cancer cells.

Sometimes, oncologists use monoclonal antibodies to launch chemotherapy and radiation treatments straight into tumors. This can occur through an IV in a vein, or as a shot. Monoclonal antibody medication treatments usually end with the stem -mab. Three monoclonal antibody types are:

One of the most common targeted therapies, signal transduction inhibitors block signals that tell cancer cells to divide too much and too fast.

This form of treatment blocks the growth of blood vessels that cancer cells form in order to retrieve nutrients and oxygen. In the case of mesothelioma and some other cancers, the target is a substance called vascular endothelial growth factor (VEGF) and utilizes the drug bevacizumab. Its usually administered in conjunction with chemotherapy medications pemetrexed and cisplatin.

This treatment utilizes the patients immune system to locate and destroy cancer cells. An oncologist can administer immunotherapies that boost the immune system to better attack cancer, or immunotherapies that highlight tumor cells so theyre quicker and easier for the immune system to find and attack.

This treatment is helpful in that it can penetrate cell membranes and interact with targets from the inside of a cell. Molecule medicines are designed to interrupt the enzymatic activity of a specified protein and generally end with the stem -ib. Three molecule medicine variations include:

Another form of targeted therapy, gene expression modulators modify the proteins that control the abnormal instruction or expression of genes in cancer cells.

When cells die after growing old or becoming damaged, this is called apoptosis. Cancer cells tend to avoid this natural process, and apoptosis inducers cause abnormal cells to go through normal cell death.

As with most cancer treatments, targeted treatments come with side effects. A patients experience with these side-effects varies, as each individuals case is unique. More common side effects include:

Rarer, but possible side effects of targeted treatments can include:

Your doctor may have some medications available to help relieve side effects, and its recommended you call or stop by their office if youre experiencing them.

A doctor will need to test your tumors to find targets the treatments can focus on. They may use a biopsy to take these tests, which consists of sampling the tumor and then checking it in a lab. Two patients with the same type of mesothelioma may not have the same targets, and some medications may be ineffective if you do not have certain gene mutations. An oncologist may have to administer other mesothelioma medications or treatments before targeted therapy can be applied.

You dont have to go through this alone. Your oncologist will have resources available if you have any questions or issues during any of your mesothelioma treatment. If targeted therapy sounds like an option for you, definitely run that by your cancer-care team, so they can fully assess whether thats the best option based on your health, mesothelioma stage, and other factors.

A mesothelioma diagnosis is a trying time for patients. Download our free guide to learn more about the disease.

Jennifer Verta thrives as a digital content writer and SEO specialist at Mesothelioma Hub. She has been producing content for clients since before she graduated from the University of Colorado at Denver with a Bachelor of Arts in Communication and a Minor in English Writing. Jens mission is to help promote awareness of mesothelioma to as many people as possible by providing only the most up-to-date and accurate content available. When she isnt cranking the gears at work, Jen can be found snowboarding, hiking, catching live music or socializing with friends.

The rest is here:
Targeted Therapy | Treating Mesothelioma - Mesothelioma Hub

Archives